Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede... |
OMIM:256300 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th... |
OMIM:619155 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... |
OMIM:614196 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... |
OMIM:613913 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:600995 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:603278 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... |
OMIM:614131 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum... |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Minimal chang... |
ORPHA:567548 |
Galactosemia I |
|
Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Increased leve... |
OMIM:230400 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Hyperlipidemia, Chronic ... |
ORPHA:567546 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... |
ORPHA:329918 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... |
ORPHA:656 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti... |
OMIM:615559 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Edema, Malabsorption, Abnormal vagina morphology, Anteriorly pl... |
ORPHA:2315 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic l... |
OMIM:235255 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Lymphangiectasia, Intestinal |
|
Edema, Malabsorption, Pedal edema, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoprotein... |
OMIM:152800 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Intestinal in... |
OMIM:619858 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Edema, Minimal change glomerulonephritis, Stage... |
OMIM:618348 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia |
OMIM:247800 |
MĂĽllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Abnormal fallopian tube morphology, Polyhydramnios, Splenomegaly, Pancreatic lym... |
ORPHA:1655 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... |
OMIM:610725 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Mala... |
ORPHA:398063 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria, Edema |
OMIM:189800 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Edema, Malabsorption, Iron deficiency anemia, Hypoalbuminemia, Abnormal i... |
OMIM:226300 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophi... |
OMIM:619644 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusion, Funct... |
ORPHA:90362 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, C... |
OMIM:619375 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr... |
OMIM:614455 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, I... |
OMIM:267700 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Edema, Proteinuria |
OMIM:614652 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... |
OMIM:615244 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Hypoalbuminemi... |
ORPHA:84090 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Generalized edema, Hypertriglyceridemia, Skin rash, Pancytopenia, Edema, Increased ... |
OMIM:603553 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Incr... |
ORPHA:85443 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Edema, Mesangial hyp... |
OMIM:617575 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema, Lymphopenia, Hypoproteinemia, Malabsorption |
ORPHA:1116 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, ... |
OMIM:614376 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... |
ORPHA:90291 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, High palate, Glomerulonephritis |
ORPHA:2172 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Splenomegaly, Leukocyt... |
OMIM:615895 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Lipodystrophy |
OMIM:305800 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia, Generalized edema |
OMIM:207731 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Pedal edema, Retrograde... |
ORPHA:49041 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, ... |
OMIM:616414 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Congenital Analbuminemia |
|
Lipodystrophy, Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoal... |
ORPHA:86816 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, A... |
OMIM:154230 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration... |
OMIM:620010 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... |
ORPHA:93126 |
Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Predominantly lower limb lymphedema, ... |
ORPHA:2035 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Skin rash, Edema, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Abnormal circulating lipid conce... |
ORPHA:225 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... |
OMIM:617731 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
Preeclampsia |
|
Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Enterokinase Deficiency |
|
Hypoproteinemia, Hypoproteinemic edema |
OMIM:226200 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Frasier Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... |
OMIM:136680 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... |
OMIM:274150 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I... |
OMIM:614034 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Proteinuria, Minimal change glomerulonephritis, Thrombocytopenia, Hyperlipidemia, St... |
ORPHA:1830 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... |
ORPHA:347 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatit... |
ORPHA:2137 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lipoatrophy, Proteinuria, Lymphocytosis, Microscopic hematuria |
ORPHA:79087 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Increa... |
ORPHA:36234 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopath... |
OMIM:603554 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Skin rash, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, High palate, Hypoalbuminemia |
OMIM:618347 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Primary a... |
OMIM:612526 |
Analbuminemia |
|
Lipodystrophy, Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol c... |
OMIM:616000 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hyp... |
ORPHA:97362 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... |
OMIM:254900 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased le... |
ORPHA:79237 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog... |
ORPHA:167 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic... |
ORPHA:447 |
Immunodeficiency 43 |
|
Bronchiectasis, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbumine... |
OMIM:241600 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal renal glomerulus morphology, Renal insufficiency, M... |
OMIM:137940 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Nephrotic syndro... |
OMIM:609049 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Incr... |
OMIM:617872 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, Macroglossia, Aminoaciduria,... |
OMIM:214100 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Acholic stools, Hypoalbuminemia, Increased serum bil... |
OMIM:619868 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Pneumon... |
ORPHA:26793 |
Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Edema, Ma... |
ORPHA:77297 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia |
OMIM:615863 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Cednik Syndrome |
|
Hypogonadism, Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Pediatric Systemic Lupus Erythematosus |
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Myositis, Edema, Leukopenia, Nephritis, Pericardial effusion, Lymphadenopathy, Nephrotic syndrome... |
ORPHA:93552 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Dehydration, Anem... |
ORPHA:230 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Autoimmune Lymphoproliferative Syndrome |
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Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... |
ORPHA:3261 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Hypocalcemia, Lymphocyt... |
OMIM:619991 |
Neuraminidase Deficiency |
|
Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam ... |
OMIM:256550 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia |
ORPHA:1192 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Abnormal ... |
ORPHA:264580 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney dis... |
ORPHA:261222 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Glo... |
ORPHA:2260 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Splenomeg... |
ORPHA:79240 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, An... |
OMIM:123550 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
Congenital Disorder Of Glycosylation, Type Ij |
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Cryptorchidism, Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Decreased glomerular fi... |
ORPHA:340 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Anemia |
ORPHA:375 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kid... |
OMIM:618886 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, High palate, Neut... |
ORPHA:443811 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Chilblain... |
OMIM:619487 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Denys-Drash Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Nephropathy, Nep... |
ORPHA:220 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy, Anemia |
ORPHA:100024 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Gastroesophageal reflux, Increased blood urea nitr... |
OMIM:223900 |
Glycogen Storage Disease Ib |
|
Proteinuria, Splenomegaly, Hyperlipidemia, Neutropenia, Nephrolithiasis, Gout, Focal segmental gl... |
OMIM:232220 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis... |
ORPHA:79259 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukopenia, Infectiou... |
ORPHA:1304 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Proteinuria, Abnormality of the kidney, Hepatocellular carcinoma |
ORPHA:369 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Glomerulonephritis, Hepatosplenomegaly |
ORPHA:99931 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Foot joint contracture, Proteinuria, Scarring, Cryptorchidism, Uveitis, Conj... |
ORPHA:90321 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb... |
ORPHA:91139 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Nephrotic syndrome... |
ORPHA:85445 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Retrograde ejaculation, High palate, Hypomagnesemia, Nocturia |
OMIM:223360 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular... |
OMIM:613404 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... |
ORPHA:439232 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Splenomegaly, Hydrops fetalis, Nephrotic syndrome, Ascites |
ORPHA:834 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Esophageal varix |
ORPHA:75234 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Splenomegaly, Thrombocytopenia, Flexion contracture, Recurrent pneumonia, Neutropeni... |
OMIM:617303 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pericardial effusion, ... |
ORPHA:36412 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, Pedal edema, Aminoacidu... |
OMIM:277900 |
Pancreatic insufficiency, combined exocrine |
|
Anasarca, Hypoproteinemia, Anal atresia |
OMIM:260450 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Osteoarthritis |
ORPHA:633 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, H... |
ORPHA:400 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Mal... |
OMIM:227810 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Malabsorption, Dehydration, Renal tubular dysfunction, Hypokale... |
ORPHA:213 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Bicornuate ute... |
ORPHA:2143 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Per... |
ORPHA:90038 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Proteinuria, Hypergonadotropic hypogonadism, Edema, Nonimmune hydr... |
OMIM:212065 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... |
ORPHA:69126 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... |
OMIM:300908 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in fema... |
ORPHA:528 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, M... |
ORPHA:91138 |
Temple Syndrome |
|
Decreased testicular size, Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Flexion cont... |
OMIM:616222 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, G... |
ORPHA:79408 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu... |
OMIM:120330 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Lymphadeno... |
ORPHA:536 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Eosinophil... |
OMIM:615816 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Xanthelas... |
OMIM:232200 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Atretic vas deferens, Hypospadias, Abnormality of the kidney, Elevated circulating cr... |
OMIM:137920 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Elevated circu... |
ORPHA:247691 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph... |
OMIM:616026 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Proteinuria, Skin rash, Malabsorption, Orchitis, Splenomega... |
ORPHA:342 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... |
ORPHA:713 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Hepatiti... |
ORPHA:549 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Thickened g... |
OMIM:146255 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede... |
ORPHA:90186 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Hiatus hernia, Stage 5 chronic kidney disease, N... |
OMIM:617729 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Intestinal p... |
ORPHA:90068 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or... |
ORPHA:556 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Bicornuate uterus, Va... |
OMIM:191830 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipi... |
OMIM:232240 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... |
ORPHA:411709 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Cl... |
ORPHA:819 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid... |
ORPHA:57 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Grade... |
OMIM:619377 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Hypercholesterolemia, Precocious puberty, High palate |
ORPHA:254531 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con... |
ORPHA:95455 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... |
OMIM:194380 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Dehydration, Renal tubular dysfunction, Lower-... |
ORPHA:99885 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Hydronephrosis, Periodontitis, Moderate albuminuria, Dentinogenesis imperfecta |
OMIM:619269 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat... |
ORPHA:90060 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft palate, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Va... |
ORPHA:275761 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Pedal edema, Nephrotic syndrome, ... |
ORPHA:330001 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Pyloric stenosis, Cryptorchidism, Cleft palate, High palate, Recurrent otitis... |
ORPHA:96184 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anem... |
OMIM:619525 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal... |
ORPHA:534 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Proteinuria, Vaginal neoplasm, Hypoperistalsis, Esophageal neoplasm, Keratit... |
ORPHA:1018 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Macroglossia, Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Gaucher Disease Type 1 |
|
Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Pericardial effusion, Thr... |
ORPHA:77259 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... |
OMIM:613179 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Velopharyngeal insufficiency, Abnormal renal morphology, Abnormality of the... |
OMIM:182290 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Mi... |
ORPHA:1307 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Hematuria, Renal artery stenosis, I... |
ORPHA:71273 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:603585 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Camptodactyly of finger, Polyhydramnios |
ORPHA:2774 |
Cog4-Cdg |
|
Hypercholesterolemia, Recurrent infection of the gastrointestinal tract, Thrombocytopenia, Hepato... |
ORPHA:263501 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lymphadenopathy, Inte... |
ORPHA:160 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Stage... |
OMIM:242900 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Myositis, Sinusitis, Ma... |
ORPHA:183 |
Ddost-Cdg |
|
Gastroesophageal reflux, Lipodystrophy, Nephrotic range proteinuria |
ORPHA:300536 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Absence of subcutaneous fat, C... |
OMIM:610965 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Edema, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Protein-losing enterop... |
OMIM:602579 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Abnormal T cell morphology |
OMIM:215250 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia, Micropenis, Pancr... |
OMIM:619471 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Glycogen Storage Disease Iv |
|
Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly, Arthrogryposis mult... |
OMIM:232500 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contracture, Hepatospl... |
ORPHA:505248 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting ... |
ORPHA:47159 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly elevated... |
OMIM:251900 |
Hellp Syndrome |
|
Hemolytic anemia, Pulmonary edema, Proteinuria, Decreased mean corpuscular hemoglobin concentrati... |
ORPHA:244242 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinur... |
OMIM:611881 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Nephrotic syndrome,... |
OMIM:251300 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, External genital hypoplasia, Cryptorchidism, High palate, Hypogonadism, Moderate a... |
OMIM:614231 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, H... |
OMIM:619147 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... |
ORPHA:2070 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Renovascular hypertension |
ORPHA:401923 |
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 creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
Pearson Syndrome |
|
Hydrops fetalis, Renal cyst, Dehydration, Hypocalcemia, Neutropenia, Reticulocytosis, Hypokalemia... |
ORPHA:699 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal i... |
ORPHA:91500 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Predo... |
ORPHA:33001 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Lymphedema, Urinary mulberry cells, Anemia, Lipiduria |
OMIM:301500 |
Leptospirosis |
|
Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Lymphadenopathy, Hyperprotei... |
ORPHA:509 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... |
OMIM:201475 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Edema, Macular edema, Hematuria |
OMIM:192315 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... |
ORPHA:900 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Multiple bladder diverticula, Recurrent... |
ORPHA:2728 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur... |
OMIM:255125 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... |
ORPHA:761 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Osteoarthritis, Acne, Hyperuricemia |
ORPHA:77296 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Renal cyst, High palate, Ga... |
OMIM:122470 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Edema, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia, Nephrotic rang... |
ORPHA:544482 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Generalized lipodystrophy, Polycystic ovar... |
ORPHA:79086 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H... |
ORPHA:263455 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia, Mild prote... |
OMIM:619685 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Dehydration |
OMIM:602199 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... |
OMIM:602522 |
Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Non-acidotic p... |
OMIM:222448 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... |
ORPHA:90035 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Abnormal circulating fatty-acid concentratio... |
ORPHA:2298 |
Ohdo Syndrome |
|
Cryptorchidism, Small scrotum, Proteinuria |
OMIM:249620 |
Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivi... |
ORPHA:85448 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flexion contractur... |
ORPHA:206549 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,... |
ORPHA:488627 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... |
OMIM:619662 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Umbilical... |
OMIM:300519 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharynge... |
OMIM:616878 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Dehy... |
ORPHA:411629 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Lymph... |
ORPHA:2483 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Achilles tendon contracture, Elevated circulating creatine kinase concentration, Ex... |
OMIM:607155 |
Galloway-Mowat Syndrome |
|
Proteinuria, Camptodactyly of finger, Hiatus hernia, Nephrotic syndrome, Nephropathy |
ORPHA:2065 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Lymphedema, Hyperlipidemia, Hema... |
ORPHA:324 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial effusion, Hypermagnes... |
ORPHA:358 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h... |
OMIM:118450 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Renal cortico... |
OMIM:243910 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Edema, Anemia of inadequate p... |
ORPHA:3202 |
Congenital Erythropoietic Porphyria |
|
Edema, Increased stool urobilinogen concentration, Anisocytosis, Abnormal circulating porphyrin c... |
ORPHA:79277 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe... |
OMIM:276700 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genital ulcers, Sple... |
OMIM:602450 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... |
OMIM:248370 |
Melas |
|
Proteinuria, Intestinal pseudo-obstruction, Hypogonadotropic hypogonadism, Gastrointestinal dysmo... |
ORPHA:550 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala... |
ORPHA:2614 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria |
ORPHA:86818 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Renal salt wasting, Increas... |
OMIM:613090 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia |
OMIM:615399 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... |
ORPHA:1855 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Edema, Myocarditis, Cervical lymphadenopathy, Leukocytosis,... |
ORPHA:2331 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Hypocholesterolemia, Constrictive perica... |
ORPHA:90363 |
Pheochromocytoma |
|
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
Gaucher Disease Type 3 |
|
Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Thrombocytopenia, Hydrops fetalis,... |
ORPHA:77261 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia |
OMIM:612300 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Macroglossia, Umbilical hernia, Macroorchidism, Hypercholesterolemia, Abnormal circ... |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Renal steatosi... |
ORPHA:412 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
Wagro Syndrome |
|
Decreased testicular size, Nephroblastoma, Proteinuria, Hypoplastic female external genitalia |
OMIM:612469 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hemolytic anemia |
OMIM:266120 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Neuhauser Syndrome |
|
Hypercholesterolemia, High palate, Bifid uvula, Dysphagia |
OMIM:249310 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Cholecystitis, Mo... |
ORPHA:99827 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Flexion contracture, Generalized lipo... |
OMIM:619127 |
Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concentration, ... |
ORPHA:355 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Increased hematocrit, Ascites, Polycyth... |
ORPHA:284227 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Sclerosing cholangitis, Neoplasm of the liver, Cholecystitis, Hepatocellular carcino... |
ORPHA:69663 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbuminemia, Gastroesophageal reflux, E... |
OMIM:619534 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Scarring, Edema, Nonimmune hydrops fetalis... |
ORPHA:95159 |
Holoprosencephaly |
|
Hyponatremia, Omphalocele, Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Congeni... |
ORPHA:2162 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Gast... |
ORPHA:64 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate |
ORPHA:2479 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar... |
ORPHA:191 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Proteinuria, Splenomeg... |
OMIM:216400 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Edema, Cryptorchidism, Transverse vaginal septum, Hydrometroc... |
OMIM:236700 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Gastroeso... |
OMIM:616682 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hepatitis |
ORPHA:209902 |
Williams Syndrome |
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Hypoplasia of penis, Elevated circulating creatine kinase concentration, Periorbital edema, Recta... |
ORPHA:904 |
Orofaciodigital Syndrome I |
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Proteinuria, Hamartoma of tongue, Cleft palate, Tongue nodules, Lobulated tongue, Ovarian cyst, H... |
OMIM:311200 |
Aymé-Gripp Syndrome |
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Inguinal hernia, Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusion... |
ORPHA:1272 |
Pure Mitochondrial Myopathy |
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Recurrent myoglobinuria |
ORPHA:254854 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Orofaciodigital Syndrome Type 1 |
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Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology... |
ORPHA:2750 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidi... |
OMIM:133540 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Renal hypoplasia, H... |
OMIM:619321 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Intestinal pseudo-obstruction, Hypergonadotropic hypogonadism, Polyhydramn... |
ORPHA:273 |
Sarcoidosis |
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Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo... |
ORPHA:797 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
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Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Pmm2-Cdg |
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Pericarditis, Multiple joint contractures, Proteinuria, Lipodystrophy, Hypogonadotropic hypogonad... |
ORPHA:79318 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |