| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Edema, Tubulointerstitial fibrosis, Hypoa... |
OMIM:614196 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
| Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... |
OMIM:607665 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, ... |
OMIM:251000 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration, Methylmalonic aciduria |
OMIM:614265 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Dehydration... |
ORPHA:93101 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
| Familial Renal Glucosuria |
|
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration |
ORPHA:69076 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria |
OMIM:612075 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:602522 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... |
OMIM:143880 |
| Glycogen Storage Disease Iv |
|
Ascites, Failure to thrive, Edema, Tubulointerstitial fibrosis, Polyhydramnios, Hydrops fetalis |
OMIM:232500 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dehydration, Dicarboxylic aciduria, Elevated circulating acylcarnitin... |
ORPHA:79159 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Nephrocalcinosis, Failure to thrive, Hypercalciuria, Dehydration, Distal renal tubul... |
OMIM:602722 |
| Chronic Hiccup |
|
Weight loss, Dehydration |
ORPHA:396 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decrease... |
OMIM:301045 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Dehydration, Ketonuria |
OMIM:251120 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:256100 |
| Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Feeding difficulties, Abdominal distention, Abnormal mitochondrial morphology, Hepa... |
OMIM:618528 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Failure to thrive, Edema, Recurrent pneumonia, Dehydration |
OMIM:616069 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... |
ORPHA:85450 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Obesity |
OMIM:616629 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy, Renal cyst |
OMIM:614870 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... |
OMIM:616829 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Dehydration, Failure to thrive, Weight loss, Hematuria, Nephrolithi... |
ORPHA:35710 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
| Sjogren Syndrome |
|
Xerostomia, Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca |
OMIM:270150 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of ren... |
OMIM:263200 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Angioedema, Infectio... |
ORPHA:139402 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss, Dehydration, Nocturia |
ORPHA:178029 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Dicarbo... |
ORPHA:289504 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Hydronephrosis, Elevated hepatic transaminase |
OMIM:617093 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Weight loss, Edema, Abnormal circulating prote... |
ORPHA:103910 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the urinary system, Failure to thrive, Dehydration, Abn... |
ORPHA:99886 |
| Birk-Landau-Perez Syndrome |
|
Hyperechogenic kidneys, Hyperkalemia, Tubulointerstitial nephritis, Renal insufficiency |
OMIM:617595 |
| Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... |
ORPHA:2260 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Tubulointerstitial nephritis, Hyperalaninemia |
OMIM:614582 |
| Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
| Combined Oxidative Phosphorylation Deficiency 46 |
|
Decreased liver function |
OMIM:618952 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Dehydration |
OMIM:143500 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... |
OMIM:618549 |
| Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin le... |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Increased circulating renin le... |
OMIM:203400 |
| Peroxisome Biogenesis Disorder 7B |
|
Decreased liver function |
OMIM:614873 |
| Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... |
ORPHA:449395 |
| Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cholestasis, Abnormal enzyme/coenzyme activity |
ORPHA:570422 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... |
ORPHA:882 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Decreased liver function, Feeding difficulties, Gastroesophageal reflux, Elevated hepatic transam... |
OMIM:616974 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
| Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
| Congenital Disorder Of Glycosylation, Type Ir |
|
Decreased liver function, Gastroesophageal reflux, Constipation |
OMIM:614507 |
| Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties in infancy, Vomiting, Abdomi... |
OMIM:613070 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
| Lymphedema-Distichiasis Syndrome |
|
Conjunctivitis, Tubulointerstitial nephritis, Renal duplication, Patent ductus arteriosus, Recurr... |
ORPHA:33001 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hyperammonemia, Renal insufficiency, Dehydration |
ORPHA:79312 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612926 |
| Reticular Dysgenesis |
|
Failure to thrive, Chronic otitis media, Weight loss, Skin rash, Dehydration |
ORPHA:33355 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepatic trans... |
OMIM:617156 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
| Hyperbiliverdinemia |
|
Decreased liver function, Green urine, Cholelithiasis, Cholestasis |
OMIM:614156 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:157 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... |
ORPHA:49041 |
| Xfe Progeroid Syndrome |
|
Cachexia, Proteinuria, Renal insufficiency, Ascites |
OMIM:610965 |
| Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria... |
ORPHA:231111 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:228308 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Abnormal ... |
ORPHA:37042 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Weight l... |
ORPHA:183 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Cachexia, Pustule, Synoviti... |
ORPHA:77297 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Dehydration |
OMIM:264350 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... |
OMIM:613812 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Feeding difficulties |
OMIM:246900 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... |
ORPHA:3337 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyp... |
OMIM:208085 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, ... |
OMIM:203800 |
| Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Lysosomal Acid Lipase Deficiency |
|
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Reduced lysosomal acid lipase activity, Diarrhea... |
OMIM:278000 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... |
OMIM:616278 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Decreased liver function, Feeding difficulties, Micropenis |
OMIM:615597 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Increased circulating renin ... |
ORPHA:556030 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru... |
ORPHA:488627 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatic failure, Diarrhea, Jaundice |
ORPHA:75234 |
| Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Dehydration, Failure to thrive, Hypophosphatemia, Nephrop... |
ORPHA:213 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Slender build |
OMIM:613662 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration, Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:27 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... |
ORPHA:411634 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Cystoi... |
ORPHA:91500 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Vomiting, Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension |
OMIM:615878 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Atopic dermatitis, Pustule, Weight loss... |
ORPHA:171876 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Decreased liver function, Hepatic steatosis, Cholestasis, Elevated hepatic trans... |
OMIM:614300 |
| Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... |
OMIM:231100 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... |
ORPHA:340 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Proteinuria, Nephropathy, Polyhydramnios |
ORPHA:2774 |
| Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Splenomega... |
OMIM:613489 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia |
OMIM:609886 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Failure to thrive, Chronic otitis media, Hepatitis, Arthritis, Osteomy... |
ORPHA:33110 |
| Intermediate Uveitis |
|
Psoriasiform dermatitis, Tubulointerstitial nephritis, Macular edema, Anterior uveitis, Optic neu... |
ORPHA:279914 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Aminoaciduria, Cachexia, Methylmalonic aciduria |
ORPHA:1933 |
| Nephronophthisis 15 |
|
Nephronophthisis, Hepatic failure |
OMIM:614845 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fail... |
OMIM:235555 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... |
OMIM:251110 |
| Galactosemia I |
|
Hepatomegaly, Aminoaciduria, Vomiting, Increased level of galactitol in urine, Cirrhosis, Decreas... |
OMIM:230400 |
| Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... |
ORPHA:79319 |
| Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Failure to thr... |
ORPHA:411629 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, 3-Methylglutaconic aciduria |
ORPHA:67048 |
| Diarrhea 2, With Microvillus Atrophy |
|
Dehydration |
OMIM:251850 |
| Propionic Acidemia |
|
Eczema, Failure to thrive, Pancreatitis, Hyperglycinemia, Hyperammonemia, Increased level of hipp... |
OMIM:606054 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria |
OMIM:304800 |
| Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hypokalemia, Increased urinary potassium, Dehydration, Hypocalciuria, Renal p... |
OMIM:607364 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration |
OMIM:560000 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemi... |
OMIM:251100 |
| Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Elevated hepatic transaminase |
OMIM:616299 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... |
ORPHA:94059 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Renal tubular dysfunction, Tubulointerstitial nephritis,... |
ORPHA:330015 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration |
OMIM:618958 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Chronic k... |
ORPHA:89938 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonem... |
ORPHA:42 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... |
ORPHA:251004 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney |
ORPHA:459061 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Dehydration |
OMIM:602199 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Ascites, Dehydration, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Chronic ... |
ORPHA:1667 |
| Peroxisome Biogenesis Disorder 8B |
|
Decreased liver function, Dysphagia, Constipation |
OMIM:614877 |
| Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Cachexia, Hypocalcemia |
ORPHA:1438 |
| Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Decreased liver function, Cholelithiasis |
ORPHA:79278 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Decreased liver function, Renal cyst, Multiple renal cysts, Elevated hepatic transaminase |
OMIM:614883 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Gastrostomy tube feeding in infancy, Decreased liver function, Hepatic steatosis, Abno... |
ORPHA:70472 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Elevated hepatic transaminase, Reye syn... |
OMIM:256810 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level, Dehydration |
OMIM:177735 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... |
OMIM:607765 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hepatocellular necrosis... |
OMIM:251880 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Fatal liver failure in infancy |
ORPHA:254857 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Portal hypertension, Hepatic failure |
OMIM:210050 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure ... |
OMIM:601678 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Poor suck, Decreased liver function, Episodic vomiting |
OMIM:615160 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Cholangitis, Aminoaciduria, Tubulointerstitial nephritis |
OMIM:124000 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hyperlipidemia, Nephrocalcinosis, Failure to thrive, Tubuloi... |
ORPHA:79259 |
| Babesiosis |
|
Hepatomegaly, Nausea and vomiting, Anorexia, Splenomegaly, Hepatic failure, Renal insufficiency, ... |
ORPHA:108 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Failure to thrive, Hypernatremic dehydration, Enuresis nocturna, Polyhydramnios, F... |
ORPHA:223 |
| Galactosemia |
|
Hepatomegaly, Vomiting, Feeding difficulties, Cirrhosis, Hepatic failure, Abnormal enzyme/coenzym... |
ORPHA:352 |
| Microvillus Inclusion Disease |
|
Abnormal renal physiology, Dehydration, Nephrocalcinosis |
ORPHA:2290 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Failure to thrive, Proximal tubu... |
ORPHA:18 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Vomiting, Abdominal distention, Decreased liver function, Cholestasis, Diarrhea |
OMIM:608104 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure, Diarrhea |
OMIM:602579 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Hypokalemia, Failure to thrive, Weight loss, Increased serum bile... |
OMIM:619377 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
| Isovaleric Acidemia |
|
Dehydration, Hyperglycinuria |
OMIM:243500 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting, Hyponatremia, Dehydration, Failure to thrive |
OMIM:300200 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Peritonitis, Splenomegaly, Cirrhosis, Intestinal obst... |
ORPHA:131 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Erythroderma, Renal insufficiency, Dehydration |
ORPHA:313 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Increased h... |
ORPHA:2088 |
| Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Pericar... |
ORPHA:358 |
| Beta-Ketothiolase Deficiency |
|
Weight loss, Edema, Hyperammonemia, Hyperuricemia, Dehydration, Ketonuria |
ORPHA:134 |
| Netherton Syndrome |
|
Eczema, Hydronephrosis, Erythroderma, Skin rash, Ectopic kidney, Aminoaciduria, Dehydration |
ORPHA:634 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Polyhydramnios, Dehydration |
OMIM:214700 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Familial Cold Urticaria |
|
Dehydration, Arthritis, Conjunctivitis |
ORPHA:47045 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, F... |
ORPHA:47159 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function |
OMIM:617021 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal hypoplasia, Renal tubular acidosis, Feeding difficulties, Renal cyst, Decreas... |
OMIM:614922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... |
OMIM:235400 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Abdominal cramps, Elevated total serum tryptase, Abnormal mast cell morphology, Decreas... |
ORPHA:98850 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss, Enterocolitis, Dehydration, Low plasma citrulline, Abnormal blood... |
ORPHA:95427 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... |
ORPHA:230 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Vomiting, Feeding difficulties, Increased urine alpha-ketoglutarate concentration, ... |
ORPHA:2394 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Cirrhosis, Chronic diarrhea, Panh... |
OMIM:615207 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Reduced natural killer cell activity, Decreased circulating antibody level, Fulmina... |
OMIM:308240 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Decreased liver function |
ORPHA:512260 |
| Microsporidiosis |
|
Sinusitis, Myocarditis, Cholangitis, Hepatitis, Abnormality of the urinary system physiology, Inf... |
ORPHA:2552 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Tubulointerstitial fibrosis, Recurrent otitis media, Joint swelling, Rheumatoid arthri... |
OMIM:607944 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278760 |
| Arima Syndrome |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:243910 |
| Shigellosis |
|
Myocarditis, Hyponatremia, Failure to thrive in infancy, Conjunctivitis, Pneumonia, Peritonitis, ... |
ORPHA:810 |
| Idiopathic Bronchiectasis |
|
Cachexia, Acute infectious pneumonia, Bronchiectasis |
ORPHA:60033 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Hepatomegaly, Fulminant hepatic failure, Feeding difficulties, Cholestasis |
OMIM:609060 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Colitis, Elevated circulating creatine kinase concentration, Hematu... |
ORPHA:90068 |
| Renpenning Syndrome |
|
Hypospadias, Cachexia |
ORPHA:3242 |
| Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... |
OMIM:241200 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis |
ORPHA:466794 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... |
OMIM:104200 |
| Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Hypokalemia, Dehydration, Hypophosphatemia, Hypomagnesemia, Oliguria, ... |
ORPHA:31824 |
| Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Melena, Hypersplenism... |
ORPHA:480520 |
| Classic Galactosemia |
|
Hepatomegaly, Vomiting, Feeding difficulties, Hepatic failure, Abnormal enzyme/coenzyme activity,... |
ORPHA:79239 |
| Cholera |
|
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... |
ORPHA:173 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic failure, Elevated ... |
ORPHA:367 |
| Alg1-Cdg |
|
Decreased liver function, Chronic diarrhea, Renal insufficiency, Nephrotic syndrome |
ORPHA:79327 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... |
OMIM:615630 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Weight loss, Pancreatitis, Oliguria, Pulmonary edema, Abnormal renal t... |
ORPHA:188 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Acute hepatic failure |
OMIM:615453 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Hepatomegaly, Dysphagia, Vomiting, Lacticaciduria, Feeding difficulties, G... |
ORPHA:26791 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Renal insuff... |
OMIM:251290 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Xerostomia, Hepatit... |
ORPHA:227990 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Weight loss, Cachexia, Hyperlipoproteinemia |
ORPHA:1979 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Myoglobinuria, Reduced carnitine O-palmitoyltransferase level, Red-brown urine, Epi... |
ORPHA:228305 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Protein avoidance, Acute hepatitis, Decreased liver function, Episodic vomiting |
OMIM:238970 |
| Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Decreased liver ... |
OMIM:606003 |
| Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase |
OMIM:613280 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Hepatic failure, Azoospermia |
ORPHA:261519 |
| Galactose Epimerase Deficiency |
|
Weight loss, Aminoaciduria |
ORPHA:79238 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly |
OMIM:615438 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Xerostomia, Hepatit... |
ORPHA:227982 |
| Wolman Disease |
|
Hepatomegaly, Nausea and vomiting, Abdominal distention, Splenomegaly, Hepatic failure, Malnutrition |
ORPHA:75233 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Failure to thrive, Weight loss, Glycosuria, Abno... |
ORPHA:99885 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pyoderma, Abnormality of the bladder, Abnormal blood ion concentration, Urinary retention, Renal ... |
ORPHA:79404 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Polyhydramnios |
OMIM:618186 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Hepatic failure |
ORPHA:156 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Peritonitis, Anuria, ... |
ORPHA:90038 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Edema, Hyperammonemia, Hyperuricemia, Acute pancreatitis, 3-Methylglutaric aciduria,... |
ORPHA:20 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Methylmalonic aciduria, Dehydrati... |
ORPHA:79282 |
| Mu-Heavy Chain Disease |
|
Weight loss, Bence Jones Proteinuria, Nephropathy |
ORPHA:100024 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... |
OMIM:618641 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Arthritis, Punctate keratitis, Dehydration |
ORPHA:92050 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... |
ORPHA:158061 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Weight loss, Cachexia, Hyperalaninemia |
ORPHA:298 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Xerostomia, Weight loss, Faci... |
ORPHA:79078 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Dysphagia, Hepatic failure |
ORPHA:2724 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Neonatal hyperbilirubinemia, Failure to thrive, Lacticaciduria, Increased level of... |
ORPHA:3008 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Hepatic failure |
ORPHA:3196 |
| Primary Sjögren Syndrome |
|
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... |
ORPHA:289390 |
| Xanthinuria, Type I |
|
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria |
OMIM:278300 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
| Desmoplastic Small Round Cell Tumor |
|
Weight loss, Cachexia, Ascites |
ORPHA:83469 |
| Developmental And Epileptic Encephalopathy 75 |
|
Prolonged neonatal jaundice, Feeding difficulties in infancy, Decreased liver function |
OMIM:618437 |
| Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Fatal liver failure in i... |
ORPHA:263501 |
| Peroxisome Biogenesis Disorder 5B |
|
Decreased liver function |
OMIM:614867 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Hemolytic-uremic syndrome, Intermittent diarrhea, Acute hepatic... |
OMIM:619644 |
| Aredyld Syndrome |
|
Cachexia, Abnormality of the ureter |
ORPHA:1133 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Whipple Disease |
|
Myocarditis, Hyponatremia, Cachexia, Pericarditis, Infectious encephalitis, Myositis, Arthritis, ... |
ORPHA:3452 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Lymphedema |
ORPHA:2930 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Abnormal renal physiology, Reduced natural killer cell activity, Decreased circulat... |
ORPHA:540 |
| Wilson Disease |
|
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... |
ORPHA:905 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyponatremia, Hyperkalemia, Penoscrotal hypospadias, Failure to thrive, Renal salt w... |
ORPHA:90791 |
| Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Pseudo-Torch Syndrome 2 |
|
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase |
OMIM:617397 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatocellular carcinoma, Abnormal renal physiology, Splenomegaly, Hepatosplenomegaly, Increased ... |
ORPHA:158057 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Weight loss, Nephropathy |
ORPHA:85447 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Proximal tubulopathy... |
ORPHA:231222 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... |
ORPHA:94093 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Cachexia, Ascites, Dehydration, Failure to thrive, Weight loss, Hyper... |
ORPHA:275761 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating al... |
OMIM:617049 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... |
OMIM:223900 |
| Wilson Disease |
|
Hepatomegaly, Hyperphosphaturia, Renal tubular dysfunction, Dysphagia, Aminoaciduria, Hepatocellu... |
OMIM:277900 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Feeding difficulties in infancy, Decreased 3-hydroxyacy... |
OMIM:231530 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Vomiting, Gly... |
ORPHA:436271 |
| Alg3-Cdg |
|
Decreased liver function, Feeding difficulties, Abnormal enzyme/coenzyme activity |
ORPHA:79321 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Vomiting, Jaundice |
OMIM:616483 |
| Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level, Cirrhosis, He... |
OMIM:615486 |
| Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... |
ORPHA:186 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Pericarditis, Xerostomia, Weigh... |
OMIM:617321 |
| Alveolar Echinococcosis |
|
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Vomiting, Hepatic cysts, Rena... |
ORPHA:284 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Xerostomia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
| Citrullinemia Type I |
|
Vomiting, Feeding difficulties, Gastroesophageal reflux, Hepatic failure |
ORPHA:247525 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hydronephrosis, Hepatic fibrosis, Feeding difficulties, Esophagitis, Hepatic steatosis, Hepatospl... |
ORPHA:541423 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Hepatic failure |
OMIM:618567 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Increased hep... |
OMIM:220110 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Decreased liver function, Feeding difficulties, Constipation |
OMIM:618606 |
| Harlequin Ichthyosis |
|
Erythroderma, Dehydration |
ORPHA:457 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hepatic f... |
OMIM:611126 |
| Sarcoidosis |
|
Keratoconjunctivitis sicca, Hypercalcemia, Tubulointerstitial nephritis, Erythema nodosum, Nephro... |
ORPHA:797 |
| Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Failure to thrive in infancy, Generalized aminoaciduria, Hyponatremia, De... |
OMIM:219800 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss, Myositis |
ORPHA:48918 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Cockayne Syndrome Type 1 |
|
Failure to thrive, Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Conj... |
ORPHA:90321 |
| Eosinophilic Fasciitis |
|
Myositis, Weight loss, Edema, Fasciitis, Arthritis, Muscular edema |
ORPHA:3165 |
| Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Weight loss, Pulmonary edema, Nephropathy, Pleural effusion, Pedal edema, Pro... |
ORPHA:330001 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting, Hypocalcemia |
OMIM:218330 |
| 19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Cachexia, Failure to thrive |
ORPHA:217346 |
| Cog2-Cdg |
|
Decreased liver function |
ORPHA:435934 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hepatic failure, Hepatic steatosis |
OMIM:261680 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hydronephrosis, Feeding difficulties, Neurogenic bladder, Splenomegaly, Decreased l... |
OMIM:608779 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis, Hepatic failure, Portal hypertension |
OMIM:619431 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Bile duct prolif... |
OMIM:203700 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
| Hardikar Syndrome |
|
Cholangitis, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Prolo... |
OMIM:301068 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Feeding difficulties, Elevated gamma-glutamyltransferase level, Macroves... |
OMIM:618329 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Nausea and vomiting, Bloody diarrhea, Anorexia, Bowel urgency, Protracted diarrhea,... |
ORPHA:100075 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Peri... |
ORPHA:534 |
| Peroxisome Biogenesis Disorder 6B |
|
Decreased liver function |
OMIM:614871 |
| Holocarboxylase Synthetase Deficiency |
|
Eczema, Perioral eczema, Weight loss, Hyperammonemia, Keratoconjunctivitis, Organic aciduria |
ORPHA:79242 |
| Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Abnormality of the urinary system, Obesity |
ORPHA:813 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... |
ORPHA:168558 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dy... |
ORPHA:90051 |
| Rhabdoid Tumor |
|
Hypercalcemia, Renal neoplasm, Hematuria, Weight loss |
ORPHA:69077 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... |
ORPHA:289548 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Cachexia, Slender build |
OMIM:603041 |
| Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Chronic hepatic failure, Splenomegaly... |
ORPHA:171 |
| Myopathy, Centronuclear, X-Linked |
|
Decreased liver function |
OMIM:310400 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome, Hepatic failure |
OMIM:607426 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Severe failure to thrive |
ORPHA:371364 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss, Peritonitis, Ascites, Pedal edema |
ORPHA:168811 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Vomiting, Nausea, Abdominal distention, Reduced aldolase level, Renal insufficiency... |
ORPHA:469 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Ascites |
ORPHA:2198 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure |
OMIM:614886 |
| Goodpasture Syndrome |
|
Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin... |
OMIM:233450 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
| Follicular Lymphoma |
|
Weight loss, Pleural effusion, Lymphedema |
ORPHA:545 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia, Abnormal circulating creatine concentration |
ORPHA:52503 |
| Pearson Syndrome |
|
Small for gestational age, Lacticaciduria, Hypokalemia, Corneal stromal edema, Dehydration, Renal... |
ORPHA:699 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic failure, Elevated hepatic transaminase |
ORPHA:398124 |
| Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Angioedema, Failure to thrive, Hypernatremic dehydration |
OMIM:256500 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Pericardial effusion, Ascites, Failure to thrive, Weight loss, Edema, Glomerular sc... |
OMIM:619487 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Glomerular scle... |
OMIM:276700 |
| Pseudomyxoma Peritonei |
|
Weight loss, Inflammation of the large intestine, Ascites |
ORPHA:26790 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia |
ORPHA:300605 |
| Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Allergic rhinitis, Ascites, Weight loss, Edema, Hypoalbuminemia, Elevated circ... |
ORPHA:2070 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Oroticaciduria, Feeding difficulties, Hepatitis, Protein avoidance, Decreased liver... |
ORPHA:415 |
| Zellweger Syndrome |
|
Hypospadias, Hepatomegaly, Hydronephrosis, Feeding difficulties in infancy, Multicystic kidney dy... |
ORPHA:912 |
| Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Edema, Acne, Arthritis... |
ORPHA:324964 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Feeding difficulties in infancy, Intrahepatic biliary atresia, Congenital hepatic f... |
ORPHA:1454 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia, Hypoplasia of penis |
ORPHA:85293 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Nephrotic syndrome, Ascites, Abnormality of the urinary system, Myositis, H... |
ORPHA:93552 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... |
ORPHA:447 |
| Ileal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Hydronephrosis, Nausea, Functional intestinal obstruction, Abnormal... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Hydronephrosis, Nausea, Functional intestinal obstruction, Abnormal... |
ORPHA:100077 |
| X-Linked Lymphoproliferative Disease |
|
Inflammation of the large intestine, Decreased circulating IgA level, Increased circulating IgA l... |
ORPHA:2442 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Feeding difficulties in infancy, Myoglobinuria, Vomiting, Decreased 3-hydroxyacyl-CoA dehydrogena... |
ORPHA:71212 |
| Retinal Venous Beading |
|
Edema, Nephritis |
OMIM:180080 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Weight loss, Hematuria, Elevated urinary norepinephr... |
ORPHA:94080 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Feeding difficulties in infancy, Dicarboxylic aciduria, Increased urine al... |
OMIM:619355 |
| Liposarcoma |
|
Weight loss, Abnormality of the kidney |
ORPHA:69078 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Feeding difficulties, Cholelithiasis, Splenomegaly, Decreased liver function, Chron... |
OMIM:618268 |
| Duodenal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Hydronephrosis, Nausea, Functional intestinal obstruction, Insulino... |
ORPHA:100076 |
| Nephroblastoma |
|
Weight loss, Hematuria, Nephroblastoma |
ORPHA:654 |
| Polyarteritis Nodosa |
|
Weight loss, Elevated circulating C-reactive protein concentration, Pericarditis, Abnormality of ... |
ORPHA:767 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Weight loss, Crohn's disease, Recurrent aphthous stomatitis,... |
OMIM:266600 |
| Isaac Syndrome |
|
Weight loss |
ORPHA:84142 |
| Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
| Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Pericarditis, Hypokalemia, Dehydration, Elevated circulating creatine kinase con... |
ORPHA:99826 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Hepatic failure, Splenomegaly |
OMIM:259720 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Urinary retention, Hepatosplenomegaly, Panhypogammaglobulinemia, Diarrhea, Elevated... |
ORPHA:79124 |
| Fanconi Anemia, Complementation Group E |
|
Horseshoe kidney, Ectopic kidney, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:600901 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hydronephrosis, Abdominal distention, Splenomegaly, Micropenis, Pancreatic lymphang... |
OMIM:235255 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure, Elevated hepatic transaminase |
ORPHA:159 |
| Fanconi Anemia, Complementation Group A |
|
Horseshoe kidney, Ectopic kidney, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:227650 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Pollakisuria |
ORPHA:95626 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Anorexia, Bowel urgency, Protracted diarrhea, Poor appetite, Hepatic failure |
ORPHA:97287 |
| Trisomy 18 |
|
Hydronephrosis, Oligohydramnios, Abnormality of the upper urinary tract, Cachexia |
ORPHA:3380 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Portal hyper... |
ORPHA:465508 |
| Leigh Syndrome With Cardiomyopathy |
|
Decreased liver function, Renal tubular acidosis, Dysphagia, Poor suck |
ORPHA:70474 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otitis media, Weight... |
ORPHA:47 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function |
OMIM:618839 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Elevated urinary epinephrine, Long penis, Dehydration, Failure to thr... |
ORPHA:90794 |
| Farber Disease |
|
Hepatic fibrosis, Feeding difficulties, Chronic diarrhea, Intrahepatic cholestasis with episodic ... |
ORPHA:333 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Abnormality of the ureter, Abnormality of the urinary system, Elevated circulating crea... |
ORPHA:800 |
| Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Hepatomegaly, Hepatic fibrosis, Intractable diarrhea, Abnormality of the pancreas, C... |
