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Gene: Tns2 MGI:2387586

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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:
tensin 2
Synonyms:
Tenc1,  nep,  nph

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 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
Hypoalbuminemia, Gastroesophageal reflux, Congenital nephrotic syndrome, Renal insufficiency, Hyp... OMIM:256300
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Generalized edema, Stage 5 chronic kidney disease, Podocy... OMIM:619155
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Proteinuria,... OMIM:613913
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Impair... OMIM:617006
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Premature ovarian ... OMIM:230400
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... OMIM:613779
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Spl... OMIM:235255
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Intestinal inflammation, Chilblains, Proteinu... OMIM:619858
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Vaginal atres... ORPHA:1655
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Anteriorly placed anus, Hydronephrosis, Abnormality of the female gen... ORPHA:2315
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Preeclampsia/Eclampsia 1
Proteinuria, Edema, Thrombocytopenia OMIM:189800
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Generalized edema, Intestinal ... ORPHA:90362
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Pleural effusion,... OMIM:619644
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Generalized edema, Intestinal lymphangiectasia, Ascites, Intestinal obstruction,... OMIM:226300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Generalized edema, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Delayed menarche, Hyperlipidemia, Acute... ORPHA:247585
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Normocytic anemia, Inflammatory abnormality of the s... ORPHA:398063
Lymphangiectasia, Intestinal
Edema, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Claw hand deformity, Elevated... OMIM:614455
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Peripheral... ORPHA:2494
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Generalized edema, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:603553
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Generalized edema, St... OMIM:615244
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Edema, Hypoalbuminemia OMIM:614652
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogo... OMIM:617575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Al Amyloidosis
Hypoalbuminemia, Macroglossia, Gastrointestinal hemorrhage, Howell-Jolly bodies, Xerostomia, Peri... ORPHA:85443
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... OMIM:616414
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Deep dermal per... ORPHA:49041
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Vesicour... OMIM:615895
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Generalized edema, Intestinal lymphangiectasia OMIM:207731
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Membranoproliferative glomerulonephritis OMIM:305800
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ... OMIM:245900
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album... ORPHA:90291
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Hyperur... OMIM:613845
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased bloo... ORPHA:231111
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Congenital Analbuminemia
Hypoalbuminemia, Facial edema, Edema, Oligohydramnios, Hyperlipidemia, Lipodystrophy, Hypercholes... ORPHA:86816
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... OMIM:304790
Lymphatic Filariasis
Urethral obstruction, Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosino... ORPHA:2035
46,Xy Sex Reversal 4
Renal dysplasia, Gonadal dysgenesis, Recurrent otitis media, Elevated circulating creatinine conc... OMIM:154230
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Conjugate... OMIM:620010
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Proteinuria, Episodic hemolytic anemia, Increased blood urea n... ORPHA:251004
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy 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
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Nephrotic syndro... OMIM:105200
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, G... ORPHA:470
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... OMIM:136680
Enterokinase Deficiency
Hypoproteinemic edema, Hypoproteinemia OMIM:226200
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con... OMIM:274150
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Lymphedema ORPHA:1116
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia... OMIM:152700
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Morbid Obesity And Spermatogenic Failure
Azoospermia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... OMIM:615703
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy... OMIM:618999
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Increased tota... ORPHA:2137
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... OMIM:300555
Frasier Syndrome
Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri... ORPHA:347
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hematuria, Pro... OMIM:614034
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Hypernatriuria, Increased mean co... ORPHA:90041
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria, Lipoatrophy ORPHA:79087
Bacterial Toxic-Shock Syndrome
Cellulitis, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concen... ORPHA:36234
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Reduced subcutaneous a... OMIM:612526
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Lymphadeno... OMIM:603554
Galactokinase Deficiency
Hepatosplenomegaly, Premature ovarian insufficiency, Hypercholesterolemia, Increased level of gal... ORPHA:79237
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal... OMIM:618882
Dengue Fever
Gastrointestinal hemorrhage, Ascites, Leukopenia, Skin rash, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Edema, Anasarca, Renal insuffic... OMIM:254900
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Nephrotic syndrome, High palate OMIM:618347
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Multiple Myeloma
Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Elevated ... ORPHA:29073
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, ... ORPHA:167
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Hyper... OMIM:617872
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Lymphedema, Renal insufficiency, Reduced subcutaneous adipose tissue, Abn... OMIM:137940
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Oligohydramnios, Proteinuria, Diffuse mes... OMIM:609049
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Elevated circulating creatine kinase concentrat... OMIM:607426
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ant... ORPHA:26793
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia ORPHA:2668
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Clitoral hypertrophy, Cryptorchidism, Protruding tongue, Hydr... OMIM:214100
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cednik Syndrome
Proteinuria, Nephrotic syndrome, Hypogonadism ORPHA:66631
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Dark urine, Hematuria, Nephrotic syndrome, Discoi... ORPHA:93552
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... ORPHA:247598
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule... ORPHA:839
Liver Disease, Severe Congenital
Recurrent otitis media, Hyperbilirubinemia, Pulmonary edema, Hypospadias, Hypoproteinemia, Aminoa... OMIM:619991
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Anasarca, Elevated circulating creatinine concentration, Proteinuria, Hem... OMIM:123550
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Elevated circul... ORPHA:264580
Neuraminidase Deficiency
Facial edema, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-link... OMIM:256550
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cryptorchidism, Proteinuria, Anemia, Nephrotic syndrome ORPHA:1192
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Recurrent inf... OMIM:301110
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Agangl... ORPHA:261222
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pneumonia, Decreased urinary urate, Recurrent urinary tract infections, Elevated ur... OMIM:613179
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Elevated circul... ORPHA:79240
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria, Megaloblastic anemia OMIM:261100
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I... ORPHA:829
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Pulmonary edema, Hematuria, Glomerulonephritis, Tubulo... ORPHA:340
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia, Cryptorchidism OMIM:608093
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... ORPHA:2929
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Elevated circulating creatinine concentration, Glomerular sclerosis, Inc... OMIM:223900
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula... OMIM:223360
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Thickened glomerular basement membrane, Recurrent urinary tract infections, Hype... OMIM:619487
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating c... OMIM:616828
Denys-Drash Syndrome
Nephropathy, Gonadal dysgenesis, Nephroblastoma, Proteinuria, Male pseudohermaphroditism, Nephrot... ORPHA:220
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Polycystic ovaries, Tubulointers... ORPHA:79259
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis ORPHA:99931
Cockayne Syndrome Type 1
Male hypogonadism, Foot joint contracture, Renal insufficiency, Cryptorchidism, Proteinuria, Scar... ORPHA:90321
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Clitoral hypertrophy, Thickened glomerular basemen... ORPHA:63
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Hyperlipidemia, Abnormality of the kidney, Hepatocellular carcinoma ORPHA:369
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Renal insufficiency, Splenomegaly, Episcleritis, Skin rash, Hematuria, Prote... ORPHA:36412
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong... OMIM:613404
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Pancreatic insufficiency, combined exocrine
Anal atresia, Hypoproteinemia, Anasarca OMIM:260450
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Abnormal circulating selenium concentration, IgA deposition in the glomer... ORPHA:79408
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated... ORPHA:1304
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Mesangial hypercell... ORPHA:91139
Cystic Echinococcosis
Abnormality of the testis size, Hyperbilirubinemia, Splenic cyst, Ovarian cyst, Renal cyst, Eosin... ORPHA:400
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Esophageal varix, Hypertriglyceridemia ORPHA:75234
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Nephrotic syndrome, Hydrops fetalis ORPHA:834
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Macroglossia, Hypoalb... OMIM:617303
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Dehydration, Acute colitis, Eleva... ORPHA:90038
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia, Osteoarthritis ORPHA:633
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... ORPHA:48435
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ... ORPHA:94059
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Lymphadenopathy... ORPHA:69126
Donnai-Barrow Syndrome
Abnormality of the uterus, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic her... ORPHA:2143
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-ind... OMIM:232800
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Proximal tubulopathy, Edema, Hypocholesterolemia, Villous atrophy, Premature ova... OMIM:212065
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Polycystic... ORPHA:528
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal insufficiency, Splenomegaly, Hem... ORPHA:91138
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Eosinop... OMIM:615816
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Enterocolitis, Nephrotic syndrom... OMIM:301108
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent otitis media, Decreased testicular size, Cryptorchidis... OMIM:616222
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... ORPHA:713
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Gastrointestinal hemorrhage, Normocytic anemia, Macular edema, Elevated c... ORPHA:247691
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegal... ORPHA:549
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Oligohydramnios, Proteinuria, Hiatus hernia, Dif... OMIM:617729
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag... OMIM:166300
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Abnormality of the kidney, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... OMIM:146255
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... ORPHA:556
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi... OMIM:227810
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Villous atrophy, Increased serum bile acid concentration, Grad... OMIM:619377
Cocaine Intoxication
Acute kidney injury, Gastrointestinal infarctions, Elevated circulating creatine kinase concentra... ORPHA:90068
Meige Disease
Cellulitis, Predominantly lower limb lymphedema, Atypical scarring of skin, Facial edema, Absence... ORPHA:90186
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop... ORPHA:90060
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced ... OMIM:210250
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... ORPHA:368
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr... OMIM:232240
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Xerostomia, Oral-pharyngeal dysphagia, Hematuria, Neutropen... ORPHA:95455
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Wilson Disease
Hypouricemia, Hyperbilirubinemia, Decreased circulating ceruloplasmin concentration, Dysphagia, I... OMIM:277900
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Oligohydramnios, Proteinuria, Primary amenorrhea, Vaginal atresia, Bico... OMIM:191830
Glycogen Storage Disease Iv
Edema, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, Tubuloint... OMIM:232500
Smith-Magenis Syndrome
Precocious puberty, Gastroesophageal reflux, Abnormality of the ureter, Renal hypoplasia/aplasia,... ORPHA:819
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Aplasia/hypoplasia of the uterus,... ORPHA:411709
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Increased LDL cholest... OMIM:278000
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Recurrent otitis media, High palate, Hypercholesterolemia ORPHA:254531
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... ORPHA:57
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A... OMIM:248250
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Hypokale... ORPHA:213
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Dentinogenesis imperfecta, Periodontitis, Hydronephrosis OMIM:619269
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circulating ferritin co... OMIM:194380
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Dehydration, Abnormal urine potassium concentration, Ascites, Hepatosplenomegaly,... ORPHA:275761
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxy... ORPHA:228308
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Oral leukoplakia, Erysipelas, Ascites, Gastrointestinal infarction... ORPHA:342
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopa... ORPHA:536
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome, Cleft palate OMIM:161200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Uterine neoplasm, Gastroesophageal reflux, Keratitis, Aspira... ORPHA:1018
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Gastroesophageal reflux, Recurrent otitis media, Ankyloglossia, Microcytic ... OMIM:619525
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Dysphagia, Male infer... OMIM:219800
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... ORPHA:2457
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Abnor... ORPHA:158048
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Recurrent otitis media, Cryptorchidism, Hypercholesterolemia, Hi... ORPHA:96184
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Edema, External genital hypoplasia, Oligohydramnios, Polyhydra... OMIM:176270
Castleman Disease
Anasarca, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Intestinal obstructi... ORPHA:160
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating creatine kinase concentration, Abnormal urinary color ORPHA:98895
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hyperammonemia, Knee flexion contracture, Hydronephrosis, Hypercholest... OMIM:620454
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Renal Nutcracker Syndrome
Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, Dy... ORPHA:71273
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chro... ORPHA:534
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Cog4-Cdg
Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Hypercholesterolemia, Thro... ORPHA:263501
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Labial pseudohypertrop... OMIM:151660
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Polyhydramnios, Camptodactyly of finger ORPHA:2774
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Renal insufficiency, Cryptorchidism, Proteinuria, High palate, Cl... ORPHA:1307
Glycogen Storage Disease Xii
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... OMIM:611881
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Smith-Magenis Syndrome
Abnormality of the urinary system, Velopharyngeal insufficiency, Abnormal renal morphology, Hyper... OMIM:182290
Xfe Progeroid Syndrome
Hypoalbuminemia, Ascites, Corneal scarring, Renal insufficiency, Absence of subcutaneous fat, Pro... OMIM:610965
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Stage 5 ... OMIM:242900
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, L... OMIM:602579
Ddost-Cdg
Nephrotic range proteinuria, Gastroesophageal reflux, Lipodystrophy ORPHA:300536
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Proteinuria, Hypercholesterolemia, Pancreatitis, Mic... OMIM:619471
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Pleural effusion, Proteinuria, Pulmonary edema, Gastrointestina... ORPHA:330001
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Abnormal T cell morphology OMIM:215250
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Macroglossia, Heparan sulfate excretion in urine, H... ORPHA:505248
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Small scrotum, Hypogonadism, External genital hypoplasia, Cryptorchidism, H... OMIM:614231
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... OMIM:251900
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyru... OMIM:619147
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Renal insufficiency, Skin rash, Intestinal obstruction, Hematuria, Prote... ORPHA:183
Hellp Syndrome
Generalized edema, Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpusc... ORPHA:244242
Tubulointerstitial Nephritis And Uveitis Syndrome
Scleritis, Elevated circulating C-reactive protein concentration, Tubulointerstitial nephritis, A... ORPHA:91500
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Ex... OMIM:201475
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Joint contracture of the hand, Oligohydramni... OMIM:251300
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... ORPHA:228305
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia ORPHA:401923
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Dysphagia, Hypoplastic spleen, Renal insufficiency, ... ORPHA:699
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Mitochondrial Trifunctional Protein Deficiency 2
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... OMIM:620300
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Leptospirosis
Acute kidney injury, Uveitis, Hepatitis, Pleural effusion, Skin rash, Optic neuritis, Cellular ur... ORPHA:509
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Dehydration, Hypomagnesemia, Aspiration pneumonia, Leukoc... ORPHA:94093
Fabry Disease
Lipiduria, Lymphedema, Renal insufficiency, Proteinuria, Anemia, Urinary mulberry cells OMIM:301500
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Recurrent urinary tract infections, Renal duplication, Prote... ORPHA:33001
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Angioedema, Gastrointestinal infarctions, Renal insufficiency, Episc... ORPHA:761
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... OMIM:609015
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Macular edema, Hematuria, Proteinuria, Edema OMIM:192315
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Granulomatosis With Polyangiitis
Periorbital edema, Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Otitis me... ORPHA:900
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Generalized lipodystrophy, Polycystic ovaries, Proteinu... ORPHA:79086
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur... OMIM:255125
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Mild proteinuria, Bilateral cryptorc... OMIM:619685
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Pleural empyema, Intestinal perforation, Acute kidney injury, Anuria, Gastrointesti... ORPHA:544482
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypophosphatemic rickets, Proteinuria, Renal Fanconi syndrome, Abnormal circulating f... ORPHA:263455
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Cornelia De Lange Syndrome 1
Cryptorchidism, Congenital diaphragmatic hernia, Hypoplastic labia majora, High palate, Ectopic k... OMIM:122470
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Pleural e... ORPHA:457077
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Allergic rhinitis, Atopic dermatitis, ... ORPHA:2070
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Recurrent otitis media, Cryptorchidism, Proteinuria,... ORPHA:2728
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids,... OMIM:309000
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, En... ORPHA:47159
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, Omphaloce... OMIM:222448
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipi... ORPHA:2298
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration OMIM:602199
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc... OMIM:602522
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... ORPHA:90035
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph node morphology, Decr... ORPHA:911
Martin-Probst Syndrome
Bifid scrotum, Umbilical hernia, Pancytopenia, Renal insufficiency, Cryptorchidism, Proteinuria, ... OMIM:300519
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Agel Amyloidosis
Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis, Proteinuria, Abnormal spleen morpho... ORPHA:85448
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Kawasaki Disease
Hypoalbuminemia, Strawberry tongue, Sterile pyuria, Hepatitis, Cervical lymphadenopathy, Thromboc... ORPHA:2331
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated... OMIM:619662
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Exercise-induced myoglobinuria, Achilles tendon contracture, Elevated circulating c... OMIM:607155
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Ankle flexion contracture, Elbow flexion contracture, Hamstring contractures, Elevated circulatin... ORPHA:206549
Ohdo Syndrome
Proteinuria, Small scrotum, Cryptorchidism OMIM:249620
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Oral-pharyngeal dysphagia, Hyperammo... OMIM:616878
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatitis, Abnormal circulating lipid concentration, Ascites, Xanthelasma, Splen... ORPHA:186
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Gastr... OMIM:276700
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Galloway-Mowat Syndrome
Nephropathy, Camptodactyly of finger, Hiatus hernia, Proteinuria, Nephrotic syndrome ORPHA:2065
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote... OMIM:207750
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Increased connective tissue, Keratoconjunctivitis, Scleritis, Increase... ORPHA:79277
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Chondrocalcinosis, Hypomagnesemia,... ORPHA:358
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Oligosacchariduria, Furrowed tongue, Lymphadenopathy, Perio... ORPHA:2483
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lym... OMIM:602450
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Intestinal pseudo-obstruct... ORPHA:550
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Lymphedema, Renal insufficiency, Hyperlipi... ORPHA:324
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Elbow flexion contracture, Contracture of the ... ORPHA:2614
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... OMIM:613090
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria ORPHA:86818
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemi... ORPHA:1855
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced subcutaneous adipose t... OMIM:606721
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Renal steatosis... ORPHA:412
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin c... ORPHA:90674
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Thrombocytopenia, Anemia, Hydrops fetalis, Pe... ORPHA:77261
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Recurrent otitis media, ... OMIM:300755
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper... OMIM:208500
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Gaucher Disease
Splenic infarction, Arthrogryposis multiplex congenita, Hepatitis, Increased circulating ferritin... ORPHA:355
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus,... ORPHA:90363
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Epididymitis, Ascites... ORPHA:99827
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis, Chondritis,... ORPHA:728
Wagro Syndrome
Proteinuria, Decreased testicular size, Hypoplastic female external genitalia, Nephroblastoma OMIM:612469
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Generalized lipodystrophy, Proteinuria, Hypertriglyceridemia,... OMIM:619127
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ... OMIM:614748
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the ki... ORPHA:284227
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Dark urine, Hyperbilirubinemia, Esophageal varix, Gastroesophagea... OMIM:619534
Low Phospholipid-Associated Cholelithiasis
Cholecystitis, Sclerosing cholangitis, Neoplasm of the liver, Hypercholesterolemia, Pancreatitis,... ORPHA:69663
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Neuhauser Syndrome
Bifid uvula, High palate, Dysphagia, Hypercholesterolemia OMIM:249310
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Polycystic ovaries, Glomerulonep... ORPHA:64
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati... ORPHA:95159
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Cockayne Syndrome A
Irregular menstruation, Atypical scarring of skin, Hypogonadism, Renal insufficiency, Splenomegal... OMIM:216400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatitis, Hypertriglyceridemia ORPHA:209902
Holoprosencephaly
Gastroesophageal reflux, Abnormality of the urinary system, Abnormality of the spleen, Median cle... ORPHA:2162
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Congenital contracture, Con... ORPHA:191
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
High palate, Hypercholesterolemia ORPHA:2479
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... OMIM:300972
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism, Pr... OMIM:616682
Williams Syndrome
Cryptorchidism, Polycystic ovaries, Periorbital edema, Rectal prolapse, Chronic otitis media, Pre... ORPHA:904
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Edema, Hydrometrocolpos, Transverse vaginal septum, Cryptorch... OMIM:236700
Orofaciodigital Syndrome I
Hamartoma of tongue, Ankyloglossia, Ovarian cyst, Proteinuria, Enamel hypoplasia, Bifid tongue, H... OMIM:311200
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Proteinuria, Camptodactyly, Per... ORPHA:1272
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Cleft soft palate, Leukocyto... OMIM:619321
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Cockayne Syndrome B
Atypical scarring of skin, Renal insufficiency, Splenomegaly, Cryptorchidism, Reduced subcutaneou... OMIM:133540
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Chronic otitis media, Hamartoma of tongue, Abnormal dental enamel m... ORPHA:2750
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Sarcoidosis
Abnormal lymph node morphology, Abnormal reproductive system morphology, Erythema nodosum, Tubulo... ORPHA:797
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Male hypogonadism, Intestinal pseudo-obstruction, Oral-pharynge... ORPHA:273
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Pmm2-Cdg
Hypoalbuminemia, Anasarca, Hyperplastic labia majora, Aspiration pneumonia, Lymphedema, Decreased... ORPHA:79318
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Renal steatosis, ... ORPHA:391665