| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... |
OMIM:614196 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Dehydration, Nephroc... |
OMIM:143880 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Failure to thrive, Hyperammonemia, Dehydration |
ORPHA:28 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, D... |
OMIM:251000 |
| Glycogen Storage Disease Iv |
|
Failure to thrive, Polyhydramnios, Edema, Hydrops fetalis, Ascites, Tubulointerstitial fibrosis |
OMIM:232500 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... |
ORPHA:79159 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failur... |
OMIM:602722 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac... |
OMIM:251120 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Central Diabetes Insipidus |
|
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Nocturia |
ORPHA:178029 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Weight ... |
ORPHA:139402 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... |
OMIM:602522 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... |
ORPHA:35710 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... |
ORPHA:289504 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
| Combined Oxidative Phosphorylation Deficiency 46 |
|
Decreased liver function |
OMIM:618952 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive |
OMIM:614582 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Hepati... |
OMIM:618549 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality of the urinary sys... |
ORPHA:99886 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616974 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, F... |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, F... |
OMIM:203400 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver... |
ORPHA:570422 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
| Peroxisome Biogenesis Disorder 7B |
|
Decreased liver function |
OMIM:614873 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Pancreatitis |
ORPHA:79312 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Predo... |
ORPHA:33001 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Failure to thrive |
OMIM:616069 |
| Reticular Dysgenesis |
|
Skin rash, Dehydration, Weight loss, Chronic otitis media, Failure to thrive |
ORPHA:33355 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Failure to thrive |
OMIM:264350 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Edema, Ca... |
ORPHA:77297 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... |
OMIM:203800 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Dehydration, Neph... |
OMIM:208085 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Dehydration, Renal tubular dysfuncti... |
ORPHA:69076 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level, Hepa... |
OMIM:278000 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
| Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:230400 |
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure |
OMIM:615878 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Feeding difficulties |
OMIM:246900 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Hypokale... |
ORPHA:213 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Renal sodium wasting,... |
ORPHA:556030 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Pancreatitis, Hyperammonemia, Dehydration |
ORPHA:27 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Juvenile Nephropathic Cystinosis |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... |
ORPHA:340 |
| Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Macular edema, Tubulointerstitial nephritis, Optic neu... |
ORPHA:279914 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Hyperkalemia, Atopic dermatit... |
ORPHA:171876 |
| Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria, Polyhydramnios |
ORPHA:2774 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Spleno... |
OMIM:235555 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties... |
OMIM:613489 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Hyperammonemia, Dehydration, ... |
OMIM:606054 |
| Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... |
OMIM:212140 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Chronic kidney dis... |
ORPHA:330015 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Congenital Disorder Of Glycosylation, Type Ir |
|
Chronic constipation, Gastroesophageal reflux, Decreased liver function |
OMIM:614507 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Dehydr... |
ORPHA:33110 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts |
OMIM:600666 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| 3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Decreased liver function |
ORPHA:67048 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Decreased liver function, Hyperglutami... |
OMIM:616299 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration |
OMIM:560000 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Polyhydramnios, Renal salt wasting, I... |
ORPHA:89938 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Dehydration, Hypoalbum... |
ORPHA:1667 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive |
OMIM:304800 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Dehydration, Hyperglyc... |
OMIM:251110 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney |
ORPHA:459061 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f... |
ORPHA:70472 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Episodic vomiting, Decreased liver function, Poor suck |
OMIM:615160 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Dehydration |
OMIM:602199 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration |
OMIM:618958 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ketonuria, Hyperammonemia, Dehydration |
OMIM:615453 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Fatal liver failure in infancy |
ORPHA:254857 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive |
OMIM:177735 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Babesiosis |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Hepatic... |
ORPHA:108 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive, Dehydration, Renal salt wasting |
OMIM:300200 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, F... |
ORPHA:223 |
| Isovaleric Acidemia |
|
Hyperglycinuria, Dehydration |
OMIM:243500 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:620126 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Dehydration, Erythroderma |
ORPHA:313 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Elevate... |
ORPHA:131 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:620125 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Episodic vomiting, Ho... |
OMIM:238970 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Decreased liver function |
ORPHA:512260 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... |
OMIM:619377 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, F... |
ORPHA:2394 |
| Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Dehydration, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial effusion, Hypomagnese... |
ORPHA:358 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Recurrent pneumonia, Small for gestational age, Dehydration |
OMIM:214150 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Dehydration, Hyperammonemia, Weight loss, Hyperuricemia |
ORPHA:134 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, A... |
ORPHA:2088 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:617093 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Hypersplenism, Diarrh... |
ORPHA:98850 |
| Familial Cold Urticaria |
|
Arthritis, Conjunctivitis, Dehydration |
ORPHA:47045 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Dehydration, Weight loss,... |
ORPHA:95427 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Dehydration, Rhin... |
ORPHA:230 |
| Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Chronic diarrhea, Decreased liver function |
ORPHA:79327 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties |
OMIM:609060 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... |
ORPHA:567983 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Bronchiectasis, Cachexia |
ORPHA:60033 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Dehydration, Abnormality of the urinary system p... |
ORPHA:2552 |
| Renpenning Syndrome |
|
Hypospadias, Cachexia |
ORPHA:3242 |
| Immunodeficiency 56 |
|
Cholangitis, Chronic diarrhea, Panhypogammaglobulinemia, Cirrhosis, Chronic hepatitis due to cryp... |
OMIM:615207 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l... |
ORPHA:367 |
| Cystinosis, Nephropathic |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... |
OMIM:219800 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic... |
ORPHA:263501 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... |
OMIM:214700 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Abdominal distention, Diarrhea, Cholestasis, Vomiting, Decreased li... |
OMIM:608104 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Pe... |
ORPHA:810 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype... |
ORPHA:480520 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Diarrhea, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Vomiting, Cirrhosis, ... |
OMIM:602579 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Joint swelling, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Juv... |
OMIM:607944 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reye syndrome-like episodes, Glu... |
ORPHA:26791 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo... |
ORPHA:173 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Polyhydramnios, Renal salt wasting,... |
OMIM:241200 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Dysgammaglobulinemia, Reduced natural killer cell activity, Splenomegaly, Fulminant... |
OMIM:308240 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Pulmonary edema, Myocarditis, Oliguria, Pedal edema, Weight lo... |
ORPHA:188 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy... |
OMIM:251880 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Oliguria, Abnormal blood ion concentration, Hypop... |
ORPHA:31824 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... |
ORPHA:227990 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia, Hypoalbuminemia, Ascites |
OMIM:610965 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss |
ORPHA:79238 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
| Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Abdominal distention, Splenomegaly, Malnutrition, Hepatic failure |
ORPHA:75233 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Increased h... |
OMIM:261680 |
| N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability, Hypospadias |
OMIM:310465 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Episodic abdominal pain, Reduced ca... |
ORPHA:228305 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... |
ORPHA:227982 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Hepatic failure |
ORPHA:261519 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Developmental And Epileptic Encephalopathy 75 |
|
Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu... |
OMIM:614922 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Renal tubular acidosis |
ORPHA:156 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Edema, Hyperammonemia, Dehydration, Weight loss, 3-Methylglutaric ... |
ORPHA:20 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Facial edema, Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial... |
ORPHA:79078 |
| Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas... |
OMIM:606003 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis |
OMIM:613280 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflamm... |
ORPHA:79404 |
| Congenital Tufting Enteropathy |
|
Dehydration, Weight loss, Arthritis, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:617049 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Hepatic failure |
ORPHA:3196 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
| Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Cachexia, Weight loss |
ORPHA:83469 |
| Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia |
ORPHA:1133 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Hepatic failure, Dysphagia |
ORPHA:2724 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... |
ORPHA:79282 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Cachexia, Weight loss |
ORPHA:298 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Lymphedema |
ORPHA:2930 |
| Peroxisome Biogenesis Disorder 5B |
|
Decreased liver function |
OMIM:614867 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, ... |
ORPHA:540 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Dehydration, He... |
ORPHA:90038 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
| Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Jaundice, Vomiting, Acute hepatic failure |
OMIM:616483 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... |
ORPHA:231222 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Increa... |
ORPHA:158057 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r... |
ORPHA:90791 |
| Peroxisome Biogenesis Disorder 8B |
|
Constipation, Decreased liver function, Dysphagia |
OMIM:614877 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Weight loss, R... |
ORPHA:99885 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... |
ORPHA:3008 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Polyhydramnios |
OMIM:618186 |
| Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Whipple Disease |
|
Hyponatremia, Myositis, Pericarditis, Cachexia, Myocarditis, Uveitis, Pedal edema, Arthritis, Inf... |
ORPHA:3452 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Hepatic failure |
OMIM:618567 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas... |
OMIM:251290 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Elevated hepatic transaminase, Fatal liver failure in infancy, Abdominal pai... |
ORPHA:275761 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Constipation, Decreased liver function, Feeding difficulties |
OMIM:618606 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Hepatic necros... |
OMIM:231530 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Alg3-Cdg |
|
Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul... |
ORPHA:79321 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... |
OMIM:259900 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fib... |
ORPHA:541423 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Nephrolithiasis, Weigh... |
OMIM:617321 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Abdominal distention, Jaundice, Biliary cir... |
ORPHA:186 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Sarcoidosis |
|
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Nephrolithiasis, H... |
ORPHA:797 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduri... |
OMIM:557000 |
| Cog2-Cdg |
|
Decreased liver function |
ORPHA:435934 |
| Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Failu... |
OMIM:124000 |
| Citrullinemia Type I |
|
Gastroesophageal reflux, Hepatic failure, Vomiting, Feeding difficulties |
ORPHA:247525 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Harlequin Ichthyosis |
|
Dehydration, Erythroderma |
ORPHA:457 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Jaundice, Abno... |
ORPHA:284 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... |
OMIM:301068 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Failure... |
ORPHA:90321 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure |
ORPHA:254881 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Feeding difficulties, 3-Methylglutaconic aciduria, Bile duct proli... |
OMIM:618329 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Pedal edema, Weight loss, Nephrotic syndrome, Nephropathy, Pleu... |
ORPHA:330001 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Eosinophilic Fasciitis |
|
Fasciitis, Myositis, Edema, Weight loss, Arthritis, Muscular edema |
ORPHA:3165 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis |
OMIM:619431 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Dicarboxylic ac... |
OMIM:611126 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Poor appetite, Anorexia, Bowel ... |
ORPHA:100075 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, C... |
ORPHA:534 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of the liver,... |
ORPHA:398124 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Abdominal distention, Gastrointestinal dysmotility, Jaundice, Diarrhea, Enterocolit... |
ORPHA:90051 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system |
ORPHA:813 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, 3-Methylglutaconic aciduria, Recurrent pneumonia, Dehydration |
OMIM:616271 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent skin infections, Allergic rhinitis, Eczema, Angioedema, Chro... |
OMIM:256500 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Dys... |
OMIM:607426 |
| Fanconi Anemia, Complementation Group E |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Deficient excision of UV-induced pyrimidine dim... |
OMIM:600901 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Weight loss |
ORPHA:2198 |
| Wilson Disease |
|
Acute hepatic failure, Aminoaciduria, Vomiting, Hepatic steatosis, Hepatomegaly, Elevated circula... |
OMIM:277900 |
| Holocarboxylase Synthetase Deficiency |
|
Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Perioral eczema |
ORPHA:79242 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati... |
ORPHA:168558 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Feeding difficulties in infancy, Cryptor... |
ORPHA:912 |
| Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Hypercalcemia, Weight loss |
ORPHA:69077 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Abdominal pain, Ab... |
ORPHA:469 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati... |
ORPHA:289548 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure, Poor suck |
OMIM:614886 |
| Follicular Lymphoma |
|
Pleural effusion, Weight loss, Lymphedema |
ORPHA:545 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Oroticaciduria, Hepatitis, Feedin... |
ORPHA:415 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Fanconi Anemia, Complementation Group A |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227650 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia |
ORPHA:300605 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Decreased liver function |
OMIM:617021 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ... |
OMIM:617156 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... |
OMIM:619487 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline phosphata... |
ORPHA:171 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena... |
ORPHA:699 |
| Peroxisome Biogenesis Disorder 6B |
|
Decreased liver function, Prolonged neonatal jaundice |
OMIM:614871 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Weight loss |
ORPHA:26790 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Edema, Atopic dermatiti... |
ORPHA:2070 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Elevated hepatic transaminase, Increased urine alpha-ketoglutarat... |
OMIM:619355 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Cryptorchidism, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, Mi... |
OMIM:235255 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Obesity, Cachexia |
ORPHA:85293 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Feeding difficulties... |
ORPHA:71212 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Edema, Discoid lupus rash, Per... |
ORPHA:93552 |
| Fanconi Anemia, Complementation Group C |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227645 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hepatic failure, Renal hypoplasia, Absence of renal corticomedullary differentiation, Feeding dif... |
OMIM:619758 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss |
ORPHA:654 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Cirrhosis, H... |
ORPHA:465508 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Cryptorchidism, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, He... |
ORPHA:1655 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure |
ORPHA:159 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Diarrhea, Hepatosplen... |
ORPHA:79124 |
| Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, W... |
ORPHA:767 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E... |
ORPHA:100078 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function |
OMIM:618839 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
| Marburg Hemorrhagic Fever |
|
Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase ... |
ORPHA:99826 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Trisomy 18 |
|
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract, Oligohydramnios |
ORPHA:3380 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Increased urine succinate level, Decreased fumarate hydratase activity... |
OMIM:606812 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Increased circulatin... |
ORPHA:99901 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Abnormality of the pancreas, Jaundice, Splenomegaly, Cholestasis, Decr... |
OMIM:222470 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, Abnormality of the ... |
ORPHA:800 |
| Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227646 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Elevated circulating alkaline... |
OMIM:618268 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Acquired Purpura Fulminans |
|
Hepatic failure |
ORPHA:49566 |
| Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Decreased liver function, Ureterocele |
OMIM:614863 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated urinary e... |
ORPHA:90794 |
| Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... |
ORPHA:29073 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Low cholesterol esterification rate, Splenomegaly, ... |
OMIM:257220 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Dehydration, Failure to thrive, Chronic sinu... |
OMIM:219700 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Weight loss, Salmonella osteomyelitis, Hypoalbuminemia |
OMIM:209950 |
| Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Gastrointestinal dysmotility, Lacticacidur... |
ORPHA:506 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
| Pleural Mesothelioma |
|
Pleural effusion, Weight loss |
ORPHA:50251 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss |
ORPHA:90060 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
| Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia, Lymphedema |
ORPHA:109 |
| Rheumatoid Arthritis |
|
Joint swelling, Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weig... |
OMIM:180300 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Hepatitis, Cholestasis |
ORPHA:292 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Hepatosplenome... |
ORPHA:228426 |
| Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
| Pfapa Syndrome |
|
Arthritis, Infectious encephalitis, Weight loss |
ORPHA:42642 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
| Ménétrier Disease |
|
Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic gastritis |
ORPHA:2494 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural ... |
ORPHA:90362 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirr... |
ORPHA:774 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
| Serotonin Syndrome |
|
Acute kidney injury, Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... |
OMIM:614034 |
| Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:98897 |
| Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepatosplenomegaly, Increased proportion o... |
ORPHA:167 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ... |
ORPHA:342 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Bronchiectasis, Weight loss |
ORPHA:411703 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Giant Cell Arteritis |
|
Renal insufficiency, Anorexia, Abdominal pain, Hematuria, Gastrointestinal infarctions, Hepatic f... |
ORPHA:397 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Hydronephrosis, Elevated circulating C-reactive protein concentr... |
ORPHA:449400 |
| Vipoma |
|
Hypercalcemia, Dehydration, Weight loss, Hypokalemia, Ascites |
ORPHA:97282 |
| Tarp Syndrome |
|
Hepatic failure, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
| Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Horseshoe kidney, Hepatic failure |
ORPHA:46059 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Hepatic failure |
OMIM:608013 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Splenomegaly, Urethral stenosis, Bone marrow hypocellular... |
ORPHA:1775 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple small medullary renal cysts, Re... |
OMIM:118450 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss |
ORPHA:1164 |
| Felty Syndrome |
|
Episcleritis, Recurrent urinary tract infections, Sinusitis, Pericarditis, Recurrent pneumonia, S... |
ORPHA:47612 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
| Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Oliguria, Weight loss |
ORPHA:514 |
| Kaposi Sarcoma |
|
Weight loss, Skin rash, Lymphedema |
ORPHA:33276 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor... |
ORPHA:36426 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Feeding difficulties, Gastroesop... |
OMIM:613658 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Feeding difficulties in infancy, Cholestasis, Diffuse hepatic steatosis, Poor suck, Chronic hepat... |
ORPHA:746 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Inflammatory abnormality of the eye, Edema, Weight loss |
ORPHA:33577 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Dehydration |
ORPHA:2131 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
| Polymyositis |
|
Pericarditis, Elevated circulating creatine kinase concentration, Weight loss, Arthritis, Abnorma... |
ORPHA:732 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Atopic dermatitis, Elevated circulating C-reactive protein concentration, Weigh... |
ORPHA:2902 |
| Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Vomiting, Elevated hepatic iron concentration, Pancreatic hyp... |
OMIM:619991 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating aspartate aminotransferase concentr... |
OMIM:619573 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight loss, Hematuri... |
ORPHA:160 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor... |
ORPHA:537 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Trichothiodystrophy |
|
Cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
| Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic syndrome, Focal segmental g... |
OMIM:617303 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Failure to thrive, Weight loss |
ORPHA:1842 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Weight loss, Lymphedema |
ORPHA:3226 |
| Takayasu Arteritis |
|
Increased inflammatory response, Weight loss, Inflammatory abnormality of the eye, Arthritis |
ORPHA:3287 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia,... |
ORPHA:398063 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Hypercalciuria, Nephrolithiasis, Dehydration, Weight loss |
ORPHA:652 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Pneumonia, Skin ras... |
ORPHA:2298 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Weight loss |
ORPHA:97289 |
| Leishmaniasis |
|
Rhinitis, Hypoalbuminemia, Weight loss |
ORPHA:507 |
| Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
| Nijmegen Breakage Syndrome |
|
Pollakisuria, Recurrent pneumonia, Cachexia |
ORPHA:647 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Splenomegaly, Hepatomegaly, Hepatic failure, Hepatosplenomegaly |
OMIM:259720 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
| Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... |
ORPHA:900 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Weight loss, Myositis |
ORPHA:764 |
| Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Dehydration, Oligohydramnios |
ORPHA:96191 |
| Pneumocystosis |
|
Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral candidiasis, Pleu... |
ORPHA:723 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting... |
ORPHA:95409 |
| Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,... |
ORPHA:79128 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Abnormality of Krebs cycle metabolism, Lacticaciduria, Dysphagia, Hepatic failure, ... |
ORPHA:255210 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Feeding difficulties in infancy, Splen... |
OMIM:252010 |
| Crimean-Congo Hemorrhagic Fever |
|
Nausea and vomiting, Hepatomegaly, Acute pancreatitis, Proteinuria, Anorexia, Abdominal pain, Orc... |
ORPHA:99827 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Micronodular cirrhosis, Hepatic failure |
OMIM:301072 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial effusion, Myocarditi... |
ORPHA:781 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Weight loss, ... |
ORPHA:361 |
| Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss... |
ORPHA:29207 |
| Brucellosis |
|
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Infectious encephalit... |
ORPHA:1304 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Weight loss |
ORPHA:391 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... |
ORPHA:77293 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Hydrops fetalis, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, M... |
OMIM:613673 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss, Hypoalbuminemia, Pleural empyema, Constrictive pericarditis, Pleural effusion, Acute... |
ORPHA:67 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Pancreatitis, Weight loss |
ORPHA:65682 |
| Fatal Familial Insomnia |
|
Urinary retention, Weight loss |
OMIM:600072 |
| Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss |
ORPHA:2126 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis |
ORPHA:99867 |
| Cystic Echinococcosis |
|
Membranous nephropathy, Hyperbilirubinemia, Renal cyst, Weight loss |
ORPHA:400 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Vomiting, Decreased liver function, Hepatic failure, Nausea |
ORPHA:466650 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Abdominal pain, Horseshoe kidney, Gastroesop... |
ORPHA:2092 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
| Camurati-Engelmann Disease |
|
Slender build, Urinary retention, Cachexia |
ORPHA:1328 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss |
ORPHA:133 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal megacystis, Rena... |
OMIM:619351 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Weigh... |
ORPHA:370348 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Joint swelling, Pleural effu... |
ORPHA:35687 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Edema, Pericardial effusion, Increased circ... |
OMIM:615846 |
| Caroli Disease |
|
Cholangitis, Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration,... |
ORPHA:53035 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Gm1 Gangliosidosis |
|
Patent ductus arteriosus, Hydrops fetalis, Weight loss, Aspiration pneumonia, Failure to thrive, ... |
ORPHA:354 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi... |
ORPHA:117 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Jaundice, Hepatosplenomegaly, Fe... |
ORPHA:646 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Slender build, Cachexia |
ORPHA:558 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Hepatitis, Weight loss, Hyperuricemia, Failure to thri... |
ORPHA:199299 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Weight loss |
ORPHA:216866 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss, Arteritis, Pleural effusion, Abnormality of the lower urinary tract |
ORPHA:679 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Stomatitis, Weight loss |
ORPHA:520 |
| Stickler Syndrome |
|
Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build |
ORPHA:828 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Myoglobinuria, Acute kidney injury |
ORPHA:423 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Angular cheilitis, Weight loss |
ORPHA:35858 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, Jo... |
ORPHA:85408 |
| Celiac Disease, Susceptibility To, 1 |
|
Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Hypocalcemia, Stomatitis, Failur... |
OMIM:212750 |
| Proteus Syndrome |
|
Cachexia, Long penis, Renal cyst, Lymphedema |
ORPHA:744 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites |
ORPHA:75565 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... |
ORPHA:391641 |
| 8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis, Weight loss,... |
ORPHA:60025 |
| Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Bacterial endocarditis |
ORPHA:2072 |
| Myoclonic Epilepsy Of Lafora |
|
Hepatic failure |
OMIM:254780 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
| Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Enuresis no... |
ORPHA:420741 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
| Addison Disease |
|
Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Weigh... |
ORPHA:85138 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites |
ORPHA:2905 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Portal ... |
OMIM:243800 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated carcinoembryonic antigen level, Ascites, Elevated circulating alpha-fetoprotein concentr... |
ORPHA:100085 |
| Loeffler Endocarditis |
|
Pericarditis, Weight loss |
ORPHA:75566 |
| Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis |
ORPHA:37 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs... |
OMIM:301074 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Zygomycosis |
|
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Elevated circulating C-reactive protein concentration, Recur... |
OMIM:619381 |
| Familial Colorectal Cancer Type X |
|
Renal neoplasm, Abnormal circulating creatine concentration, Weight loss |
ORPHA:440437 |
| Gallbladder Neuroendocrine Tumor |
|
Ascites, Cholecystitis, Weight loss |
ORPHA:100086 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... |
ORPHA:31204 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... |
ORPHA:449427 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Lafora Disease |
|
Hepatic failure, Nasogastric tube feeding |
ORPHA:501 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Edema, Weight loss |
ORPHA:309031 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
| Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Weight loss |
ORPHA:411602 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Iridocyclitis, Bronchiectasis, Hypercalciuria, Uveitis, Weight loss, Arthri... |
OMIM:181000 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Phimosis, Urinary bladder inflammation, Xerostomia, Bronchiectasis, Weight loss, Hemat... |
ORPHA:99921 |
| Immunodeficiency 31C |
|
Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous candidiasis, Weight loss, Chronic or... |
OMIM:614162 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Weight loss |
ORPHA:79430 |
| Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
| Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... |
ORPHA:64 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Periorbital edema, Abnor... |
ORPHA:904 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Esophagitis, Weight loss |
ORPHA:913 |
| Glucagonoma |
|
Skin rash, Hypercalcemia, Weight loss, Stomatitis, Ascites |
ORPHA:97280 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Kikuchi-Fujimoto Disease |
|
Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Pustule, Myoca... |
ORPHA:50918 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
| Dermatomyositis |
|
Pericarditis, Edema, Periorbital edema, Myocarditis, Weight loss, Arthritis |
ORPHA:221 |
| Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Weight loss |
ORPHA:103918 |
| Mucolipidosis Type Ii |
|
Weight loss, Otitis media, Oligohydramnios |
ORPHA:576 |
| Ppoma |
|
Ascites, Hypercalcemia, Weight loss |
ORPHA:97278 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Polyhydramnios, Aspiration pneumonia, Weight loss |
ORPHA:2020 |
| Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
| Somatostatinoma |
|
Ascites, Hypercalcemia, Weight loss |
ORPHA:97283 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Grfoma |
|
Ascites, Hypercalcemia, Weight loss |
ORPHA:97261 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Malt Lymphoma |
|
Posterior uveitis, Weight loss |
ORPHA:52417 |
| Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Hypokalemia, Weight loss |
ORPHA:91347 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| African Trypanosomiasis |
|
Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Myocarditis, Weight loss, Opt... |
ORPHA:3385 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Acne, Increased body weight, Recurrent cutaneous fungal infecti... |
ORPHA:99889 |
| Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
| Choreoacanthocytosis |
|
Arthritis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:2388 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Osteoarthritis, Weight loss |
ORPHA:740 |
