Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o... |
ORPHA:618 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Papillary renal cel... |
OMIM:145001 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Intestinal obstruction, ... |
ORPHA:2591 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ov... |
OMIM:614350 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ileu... |
ORPHA:83469 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... |
ORPHA:247806 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben... |
ORPHA:440437 |
Gardner Syndrome |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Pancreatic adenocarcinoma, Neoplasm of the nose, Intestinal obstruction, Enlarged p... |
ORPHA:2869 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Glioblastoma multiform... |
ORPHA:144 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... |
ORPHA:370348 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Jaundice... |
ORPHA:1333 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Hypospadias, Hypergonadotropic... |
ORPHA:2959 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Elevated cir... |
ORPHA:97261 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Elevated cir... |
ORPHA:97278 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Elevated cir... |
ORPHA:97283 |
Dyskeratosis Congenita |
|
White hair, Premature graying of hair, Neoplasm, Sparse hair, Hepatomegaly, Alopecia, Abnormal ey... |
ORPHA:1775 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:99880 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Follicular thyroid carcinoma, Elevat... |
ORPHA:97282 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:143 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas |
OMIM:147630 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Decreased serum creatinine, Hypohomocysteinemia, Hyp... |
OMIM:617744 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Elevated cir... |
ORPHA:97280 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Elevated circulating creatinine concentration |
OMIM:616733 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma |
ORPHA:97286 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juveni... |
ORPHA:2929 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney |
OMIM:602088 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm of the stomach, Pancr... |
ORPHA:99889 |
Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas |
ORPHA:358 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Perimembranous ventricular septal de... |
OMIM:608104 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
OMIM:608836 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Gastrointestinal stroma tumor, Splenomegaly, Lymphoma, Abnormality... |
ORPHA:1572 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Elevated circulating creatinine concentration |
OMIM:614376 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary prolactin cel... |
ORPHA:276152 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react... |
ORPHA:79126 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Hyperlipidemia, Elevated circulating creatinine... |
ORPHA:439232 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Dermatomyositis |
|
Abnormal hair quantity, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung... |
ORPHA:221 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Prolonged G2 phase of cell cy... |
OMIM:227646 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Cardiomyopathy, Elevated circulating creatinine concentration |
ORPHA:247691 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Enlarged kidney, Mitral valve prolapse |
ORPHA:730 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Oligomeganephronia |
|
Secundum atrial septal defect, Elevated circulating creatinine concentration |
ORPHA:2260 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
ORPHA:99826 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubin... |
OMIM:619534 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Igg4-Related Kidney Disease |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... |
ORPHA:449395 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |