Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Dehydration, Protracted diarrhea, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
Diarrhea 9 |
|
Diarrhea, Failure to thrive, Villous atrophy |
OMIM:618168 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,... |
OMIM:615237 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive |
OMIM:615863 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Chronic Hiccup |
|
Weight loss, Dehydration, Depression |
ORPHA:396 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Reticular Dysgenesis |
|
Malabsorption, Diarrhea, Dehydration, Weight loss, Failure to thrive |
ORPHA:33355 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting, Dehydration |
OMIM:610370 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Central Diabetes Insipidus |
|
Diarrhea, Dehydration, Weight loss, Depression, Lethargy, Failure to thrive |
ORPHA:178029 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... |
ORPHA:2198 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting, Dehydration |
OMIM:614265 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
Chylomicron Retention Disease |
|
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, Vomiting, Stea... |
OMIM:246700 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Chronic diarrhea, Hypertonic dehydration, Malabsorption |
OMIM:606824 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Vomiting |
ORPHA:622 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Growth delay, Vomiting, Lethargy |
ORPHA:30925 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Dehydration, Malabsorption |
ORPHA:83620 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy, Malabsorption |
OMIM:238750 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Polyhydramnios, Diarrhea, Weight loss, Decreased intestinal transit time, Hi... |
OMIM:620045 |
Hypercalcemia, Infantile, 1 |
|
Dehydration, Weight loss, Vomiting, Lethargy, Failure to thrive |
OMIM:143880 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, Inflammation of ... |
OMIM:266600 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... |
OMIM:613291 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusion, Chronic diarrhea, ... |
ORPHA:90362 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive, Dehydration |
ORPHA:28 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Dehydration, Macroglossia, Intrauterine growth retardation, Failure to... |
ORPHA:99886 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Dehydration, Dysphagia, Intrauterine growth retardation, Failure to thrive |
OMIM:618958 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Secretory diarrhea, Enterocolitis, Failure to thrive, Episodic vo... |
OMIM:616050 |
Idiopathic Achalasia |
|
Weight loss, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Steatorrhea, Failure to t... |
OMIM:602579 |
Microvillus Inclusion Disease |
|
Diarrhea, Abnormal small intestinal villus morphology, Dehydration, Villous atrophy |
ORPHA:2290 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Short stature, Failure to th... |
ORPHA:388 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:52416 |
Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Small for gestational age, Lethargy |
OMIM:617065 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Secretory diarrhea, Dehydration, Vomiting, Failure to thrive |
OMIM:616069 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Malabsorption, Obesity, Villous atrophy |
OMIM:600955 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age, Edema |
OMIM:610498 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... |
OMIM:613662 |
Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Lethargy, Failure to thrive |
OMIM:274270 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Gastroesophageal reflux, Dehydration |
OMIM:251120 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Weight loss, Inflammation of the large intestine, Constipation, Ascites |
ORPHA:26790 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Lethargy, Failure to thrive, Dysphagia |
OMIM:613561 |
Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia |
ORPHA:1935 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Dehydration |
ORPHA:289504 |
Severe Canavan Disease |
|
Gastroesophageal reflux, Vomiting, Lethargy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Angioedema, Failure to thrive, Recurrent infection of... |
OMIM:256500 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Diarrhea, Steatorrhea, Weight lo... |
ORPHA:2070 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... |
OMIM:619377 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Vomiting, Intraute... |
ORPHA:1201 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Autosomal Agammaglobulinemia |
|
Malabsorption, Diarrhea, Dehydration, High palate, Failure to thrive |
ORPHA:33110 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, Vomiting |
OMIM:619510 |
Cystinosis |
|
Short stature, Malabsorption, Dehydration, Vomiting, Delayed puberty, Failure to thrive |
ORPHA:213 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Growth delay, Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vomiting |
OMIM:618226 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Lethargy |
ORPHA:26792 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Chronic diarrhea, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Failure to thrive, Vomiting, Dehydration |
OMIM:602722 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine |
OMIM:191390 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Vomiting |
OMIM:237310 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Macroglossia, Constipation, Lethargy, Goiter |
OMIM:274400 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Lethargy, Anal atresia |
OMIM:222748 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate, Weight loss |
ORPHA:141152 |
Cyclic Vomiting Syndrome |
|
Gastrointestinal dysmotility, Growth delay, Vomiting, Lethargy, Nausea |
OMIM:500007 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive, Gastroesophageal reflux, Narrow palate |
OMIM:611523 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive |
OMIM:209920 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Dehydration, Vomiting, Lethargy, Failure to thrive |
OMIM:212140 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy, Failure to thrive, Dehydration |
ORPHA:79312 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Pedal edema, Weight loss, Ascites |
ORPHA:168811 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Failure to thrive, Vomiting, Dehydration |
OMIM:203400 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Episodic vomiting |
OMIM:618224 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Dehydration, Weight loss, Vomiting, Ch... |
ORPHA:171876 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Lethargy, Failure to thrive, Short stature |
ORPHA:2089 |
Propionic Acidemia |
|
Short stature, Dehydration, Constipation, Vomiting, Lethargy, Failure to thrive |
OMIM:606054 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Chronic diarrhea,... |
OMIM:557000 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Secretory diarrhea, Elevated stool chloride content, Dehydration, Growth delay, F... |
OMIM:214700 |
Isovaleric Acidemia |
|
Lethargy, Vomiting, Dehydration |
OMIM:243500 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Failure to thrive, Vomiting, Dehydration |
ORPHA:556030 |
Huntington Disease-Like 2 |
|
Weight loss, Bradykinesia, Depression, Apathy, Inertia |
OMIM:606438 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Citrullinemia Type I |
|
Gastroesophageal reflux, Failure to thrive, Vomiting, Lethargy |
ORPHA:247525 |
Idiopathic Intracranial Hypertension |
|
Obesity, Depression, Vomiting, Lethargy, Nausea |
ORPHA:238624 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Failure to thrive, Vomiting, Dehydration |
OMIM:264350 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Cap Polyposis |
|
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation, Colorectal polyposis |
ORPHA:160148 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Vomiting, Dehydration |
OMIM:602199 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive, Vomiting |
OMIM:618228 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Villous atrophy, Chronic diarrhea, Ileus |
OMIM:304790 |
Immunodeficiency 31C |
|
Villous atrophy, Short stature, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Growth dela... |
OMIM:614162 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy, Failure to thrive, Vomiting, Dehydration |
OMIM:251000 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Dehydration, Weight loss, Vomiting, Failure to thrive |
ORPHA:35710 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Macroglossia, Constipation, Lethargy |
ORPHA:95717 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Failure to thrive, Small for gestational age, Dehydration |
OMIM:214150 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Malabsorption, Lymphedema, Diarrhea, Furrowed tongue, Hamartomato... |
ORPHA:2930 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Failure to thrive, Vomiting, Dehydration |
OMIM:177735 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Wolman Disease |
|
Cachexia, Esophageal varix, Growth delay, Steatorrhea, Ascites |
ORPHA:75233 |
Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology, Ascites, Malabsorption |
ORPHA:100025 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Growth delay, Failure to thrive, Dehydration |
OMIM:610600 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Growth delay, Gastroesophageal reflux, Lethargy, Failure to thrive |
OMIM:614857 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting, Dehydration |
OMIM:560000 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Vomiting, Cerebral edema |
OMIM:237300 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Growth delay, Inflammation of the large in... |
OMIM:614700 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Pfapa Syndrome |
|
Weight loss, Malabsorption |
ORPHA:42642 |
Vipoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Malabsorption, Incre... |
ORPHA:97282 |
Shigellosis |
|
Failure to thrive in infancy, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody dia... |
ORPHA:810 |
Pleural Mesothelioma |
|
Pleural effusion, Weight loss, Dysphagia |
ORPHA:50251 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix... |
ORPHA:131 |
Netherton Syndrome |
|
Short stature, Dehydration, Malabsorption |
ORPHA:634 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Dysphagia |
OMIM:233910 |
Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Failure to thrive, Vomiting, Dehydration |
OMIM:251110 |
Classic Galactosemia |
|
Cryptorchidism, Diarrhea, Depression, Vomiting, Delayed puberty, Lethargy, Ascites |
ORPHA:79239 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Spinocerebellar Ataxia 48 |
|
Depression, Cachexia, Dysphagia |
OMIM:618093 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Failure to thrive, Vomiting, Dehydration |
OMIM:615453 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Failure to thrive, Vomiting |
ORPHA:2394 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, P... |
OMIM:175500 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Hypertonic dehydration, Constipation, Vomiting, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Hypertonic dehydration, Constipation, Vomiting, Failure to thrive |
OMIM:304800 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Vomiting |
OMIM:618225 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Diarrhea, Vomiting, Stea... |
OMIM:212065 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Dehydration |
ORPHA:27 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age |
OMIM:312170 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diarrhea, Short stature |
ORPHA:49827 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Beta-Ketothiolase Deficiency |
|
Edema, Diarrhea, Dehydration, Weight loss, Vomiting, Apathy |
ORPHA:134 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Atrophic muscu... |
ORPHA:298 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Diarrhea, Vomiting, Lethargy, Failure to thrive, Nausea |
ORPHA:927 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Ileus, Ovarian neoplasm, Weight loss, As... |
ORPHA:83469 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Constipation |
ORPHA:101150 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Pancreatic cysts, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios |
OMIM:263200 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Typhoid |
|
Gastrointestinal hemorrhage, Lethargy, Diarrhea, Constipation |
ORPHA:99745 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Diarrhea, Vomiting, Cachexia |
ORPHA:42 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Diarrhea, Peritonitis, Rectal prolapse, Colonic stenosis, Dehydration, Bl... |
ORPHA:90038 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Failure to thrive in infancy |
OMIM:619064 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... |
OMIM:619573 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy |
OMIM:606367 |
Adrenal Hypoplasia, Congenital |
|
Cryptorchidism, Failure to thrive, Dehydration, Delayed puberty |
OMIM:300200 |
Necrotizing Enterocolitis |
|
Small for gestational age, Edema, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy, Asc... |
ORPHA:391673 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Short stature, Small for gestational age, Tracheoesophageal fistula, High palate, Stomatitis, Let... |
OMIM:277380 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Macroglossia, Constipation, Lethargy, Goiter |
ORPHA:95716 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Small for gestational age, Large for gestational age |
ORPHA:324575 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Cryptorchidism, Diarrhea, Ascites, Vomiting, Protein-losing enteropathy, Neonatal death, I... |
OMIM:608104 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive, Episodic vomiting |
OMIM:238970 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Zollinger... |
ORPHA:652 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Vomiting, Intrauterine growth retardation, Failure to thrive, Lethargy |
ORPHA:2169 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:250620 |
Wolcott-Rallison Syndrome |
|
Short stature, Dehydration, Growth delay, Decreased body weight, Ascites, Exocrine pancreatic ins... |
ORPHA:1667 |
Renal Hypoplasia, Bilateral |
|
Short stature, Small for gestational age, Edema, Cryptorchidism, Growth delay, Lethargy, Failure ... |
ORPHA:97362 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Gloss... |
ORPHA:79284 |
Citrullinemia Type Ii |
|
Diarrhea, Mania, Vomiting, Hepatocellular carcinoma, Lethargy, Delayed menarche, Decreased body m... |
ORPHA:247585 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Lethargy, Diarrhea, Ascites |
ORPHA:99828 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Pituitary hypothyroidism, Depression, Growth delay, Macroglossia, Constipation, Mac... |
ORPHA:90674 |
Methylmalonic Aciduria, Cbla Type |
|
Lethargy, Failure to thrive, Vomiting, Dehydration |
OMIM:251100 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Diarrhea, Dehydration, Weight loss, Apathy, Lethargy, Episodic vomiting |
ORPHA:20 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Lethargy, Weight loss |
ORPHA:79242 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Celiac disease, Postnatal growth retardation, Diarrhea, Depression, Weight loss, V... |
OMIM:212750 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Gr... |
ORPHA:99832 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Celiac disease, Diarrhea, Pituitary adenoma, Adrenocorticotropic hormone defi... |
ORPHA:199299 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive, Short stature |
OMIM:611590 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to th... |
ORPHA:79319 |
Cystic Fibrosis |
|
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Dehydration, Steatorrhea, Failure to thrive, Ex... |
OMIM:219700 |
Insulinoma |
|
Primary hyperparathyroidism, Increased body weight, Zollinger-Ellison syndrome, Pituitary prolact... |
ORPHA:97279 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Short stature, Small for gestational age, Polyhydramnios, Intractable diarrhea, ... |
OMIM:222470 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Overweight, Pericardial effusion, Obesity, Anteriorly placed anus, Vom... |
ORPHA:26793 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Diarrhea, Esophageal varix, Dehydration, Weight loss, Ascites, Vomiting, Steatorrhea, F... |
ORPHA:275761 |
Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Intrauterine growth retardation, High palate, Lethargy |
ORPHA:765 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
Cholera |
|
Achlorhydria, Diarrhea, Dehydration, Vomiting, Lethargy |
ORPHA:173 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276556 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Lymphedema, Diarrhea, Weight loss |
ORPHA:33276 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Dehydration, Growth de... |
ORPHA:47159 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Lethargy |
OMIM:201475 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Weight loss, Joint swelling, Apathy, Hepatocellular carcinoma, Lethargy, Test... |
ORPHA:465508 |
Perry Syndrome |
|
Weight loss, Apathy, Depression |
ORPHA:178509 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Short stature, Small for gestational age, Bloody diar... |
ORPHA:84064 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276575 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Depression, Bradykinesia, Weight loss, Apathy, Decreased body mass index |
ORPHA:399 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Small for gestational age, Dehydration, Oligohydramnios |
OMIM:208085 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276580 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Cirrhosis, Familial |
|
Lethargy, Ascites, Esophageal varix |
OMIM:215600 |
Benign Recurrent Intrahepatic Cholestasis |
|
Chronic diarrhea, Weight loss, Acholic stools, Hepatocellular carcinoma, Cholelithiasis |
ORPHA:65682 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Dehydration |
OMIM:620126 |
Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Diarrhea, Lethargy, Failure to thrive, Decreased testicular size |
OMIM:201100 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Rhizomelia, Edema, Polyhydramnios, Cryptorchidism, Lethargy, Failure t... |
OMIM:607143 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
X-Linked Agammaglobulinemia |
|
Short stature, Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive |
ORPHA:47 |
Juvenile Huntington Disease |
|
Bradykinesia, Weight loss, Depression |
ORPHA:248111 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Short stature |
OMIM:618120 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Pedal edema, Weight loss, Int... |
ORPHA:330001 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Bloody diarr... |
ORPHA:67 |
Genetic Transient Congenital Hypothyroidism |
|
Edema, Macroglossia, Constipation, Lethargy, Thyroid hypoplasia, Goiter |
ORPHA:226316 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... |
ORPHA:440437 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Neonatal death, Lethargy, Failure to thrive |
OMIM:605711 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Weight loss |
ORPHA:545 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive, Vomiting |
OMIM:210200 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... |
ORPHA:309108 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Glossitis |
ORPHA:2221 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration, Growth delay, Stomatitis, Intrauterine growth retardation, Failure ... |
ORPHA:79282 |
Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Oral-pharyngeal dysphagia, Diarrhea, Gastrointestinal ... |
ORPHA:2131 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Dehydration, Adrenocorticotropic hormone excess, Vomiting, Failure to thrive, Con... |
ORPHA:90791 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Weight loss, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy |
OMIM:619386 |
Pearson Syndrome |
|
Hypoparathyroidism, Median cleft lip and palate, Pancreatic fibrosis, Decreased response to growt... |
ORPHA:699 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Chronic diarrhea, Gastroesophageal reflux, Vomiting, Lethargy, Pleural effusion, Failure to thrive |
OMIM:620233 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Growth delay, Lethargy |
ORPHA:289916 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Diarrhea, Increased body weight, Vomiting, Lethargy |
ORPHA:263455 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Polyhydramnios, Narrow palate, High palate, Gastroesophageal reflux, Neonatal death |
OMIM:618186 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Vomiting, Cerebral edema |
OMIM:201450 |
Parenteral Nutrition-Associated Cholestasis |
|
Biliary hyperplasia, Cholelithiasis, Villous atrophy, Small for gestational age |
ORPHA:567983 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Neonatal death, Lethargy, Stillbirth, Polyhydramnios |
OMIM:614922 |
Lamellar Ichthyosis |
|
Short stature, Dehydration |
ORPHA:313 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age, Hydrops fetalis |
OMIM:609015 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation |
ORPHA:52503 |
Maple Syrup Urine Disease |
|
Lethargy, Vomiting, Cerebral edema |
OMIM:248600 |
Majeed Syndrome |
|
Edema, Cachexia, Malabsorption, Weight loss, Failure to thrive |
ORPHA:77297 |
Ogden Syndrome |
|
Postnatal growth retardation, High, narrow palate, Lethargy, Cryptorchidism |
ORPHA:276432 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Melena, Vomiting, Dysphagia, Lethargy, Nausea |
ORPHA:319218 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive |
OMIM:615838 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Gastritis, Duodenal ulcer, Diarrhea, Weight loss, Joint swelling, Colitis, Vomit... |
OMIM:619381 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Vomiting |
OMIM:600649 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Growth delay, Constipation, Failure to ... |
ORPHA:223 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Cryptorchidism, Xerostomia, Increased body weight, Chronic constipation, Abdominal... |
ORPHA:398069 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... |
ORPHA:679 |
Renpenning Syndrome |
|
Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Decreased testic... |
ORPHA:3242 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Oromandibular Dystonia |
|
Depression, Weight loss, Dysphagia |
ORPHA:93958 |
Alg9-Cdg |
|
Villous atrophy, Rhizomelia, Pericardial effusion, Diarrhea, Hydrops fetalis, Hypoplasia of the o... |
ORPHA:79328 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Dysphagia, Nodular goiter |
ORPHA:1332 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Diarrhea, Esophageal carcinoma, Enterocolitis, Growth delay, Abno... |
ORPHA:391487 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Diarrhea, Vomiting, Intrauterine growth retardation, Failure to thri... |
ORPHA:71212 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Gastroparesis, Edema, Depression, Bradykinesia, Constipation, Gastroe... |
ORPHA:254892 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Malabsorption, Diarrhea, Weight loss, Ascites |
ORPHA:98850 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Intrauterine growth retardation |
OMIM:616271 |
Familial Hypoaldosteronism |
|
Growth delay, Lethargy, Diarrhea, Failure to thrive |
ORPHA:427 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Xerostomia, Obesity, Abdominal obesity, Small pituitary gland, Lethargy, Failure ... |
ORPHA:398079 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Acrodermatitis Enteropathica |
|
Short stature, Malabsorption, Chronic diarrhea, Furrowed tongue, Weight loss, Failure to thrive, ... |
ORPHA:37 |
Familial Renal Glucosuria |
|
Moderate postnatal growth retardation, Dehydration |
ORPHA:69076 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Edema, Macroglossia, Constipation, Lethargy, Thyroid hypoplasia, Goiter |
ORPHA:90673 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Edema, Weight loss |
ORPHA:324964 |
Christianson Syndrome |
|
Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Vomiting |
OMIM:616483 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Diarrhea, Weight loss, Growth delay, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Vomiting |
OMIM:614299 |
Microsporidiosis |
|
Cachexia, Peritonitis, Chronic diarrhea, Abnormality of the parathyroid gland, Dehydration, Weigh... |
ORPHA:2552 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Lethargy |
ORPHA:3282 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Short stature, Anal atresia |
ORPHA:884 |
Isolated Atp Synthase Deficiency |
|
Lethargy, Short stature |
ORPHA:254913 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Citrullinemia, Classic |
|
Lethargy, Failure to thrive, Vomiting, Cerebral edema |
OMIM:215700 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration, Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive |
ORPHA:99885 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, High palate |
OMIM:604377 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Vomiting, Dysphagia |
OMIM:607483 |
Trichinellosis |
|
Edema, Facial edema, Periorbital edema, Apathy, Dysphagia, Lethargy, Nausea |
ORPHA:863 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Diarrhea, Weight loss, Severe short-limb dwarfism, Failure to thrive |
ORPHA:1842 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho... |
ORPHA:1018 |
Transcobalamin Ii Deficiency |
|
Lethargy, Diarrhea, Failure to thrive, Vomiting |
OMIM:275350 |
Pyruvate Carboxylase Deficiency |
|
Dehydration, Growth delay, Apathy, Vomiting, Failure to thrive |
ORPHA:3008 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Diarrhea, Rectal prola... |
ORPHA:79076 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Weig... |
ORPHA:1333 |
Infantile Nephropathic Cystinosis |
|
Dehydration, Growth delay, Constipation, Vomiting, Failure to thrive |
ORPHA:411629 |
Semilobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Cleft palate, Depression, G... |
ORPHA:93924 |
Yao Syndrome |
|
Diarrhea, Xerostomia, Weight loss |
OMIM:617321 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Diarrhea, Weight loss |
ORPHA:411703 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... |
ORPHA:97280 |
Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Edema, Esophageal stricture, Dehydration, Gastrointestinal inflammation, Growth delay, Constipati... |
ORPHA:79404 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Edema, Gastrointestinal obstruction, Weigh... |
ORPHA:100078 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Colitis, Esophageal stenosis |
OMIM:615190 |
Distal Renal Tubular Acidosis |
|
Short stature, Diarrhea, Dehydration, Growth delay, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
Inflammatory Pseudotumor Of The Liver |
|
Neoplasm of the liver, Vomiting, Nausea, Weight loss |
ORPHA:90003 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... |
ORPHA:97278 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss |
ORPHA:69077 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Short stature, Small for gestational age, Polyhydramnios, Diarrhea, Dehydrat... |
OMIM:601678 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Diarrhea, Narrow palate, High palate, Vomiting, Lethargy, Oligohydramnios |
OMIM:608836 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Dehydration, Adrenocorticotropic ... |
ORPHA:168558 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Diarrhea |
OMIM:255120 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, P... |
ORPHA:85450 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Short stature, Malabsorption, Cryptorchidism, Narrow palate, Depression, Deh... |
ORPHA:534 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Postnatal growth retardation, Cryptorchidism, Dehydration, Macroglossia, High palate, Intrauterin... |
ORPHA:96191 |
Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Vomiting, Cerebral edema |
OMIM:311250 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Dehydration, Adrenocorticotropic ... |
ORPHA:289548 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Pituitary dwarfism, Anterior pituitary hypoplasia, Decreased respons... |
ORPHA:226307 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Pituita... |
ORPHA:913 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Weight loss |
ORPHA:449400 |
Eosinophilic Fasciitis |
|
Muscular edema, Edema, Weight loss |
ORPHA:3165 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Pleural effusion, Ascites |
OMIM:617397 |
Glossopharyngeal Neuralgia |
|
Depression, Odynophagia, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:221098 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive, Vomiting |
OMIM:210210 |
Huntington Disease-Like 1 |
|
Bradykinesia, Weight loss, Depression |
ORPHA:157941 |
Perry Syndrome |
|
Bradykinesia, Weight loss, Apathy, Depression |
OMIM:168605 |
Fatal Familial Insomnia |
|
Weight loss, Constipation, Dysphagia |
OMIM:600072 |
Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi... |
ORPHA:813 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Palpebral edema, Cryptorchidism, Cleft palate, High palate, Hypoplasti... |
OMIM:614866 |
Cystinosis, Nephropathic |
|
Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dysphagia, Weight loss, G... |
OMIM:219800 |
Dend Syndrome |
|
Vomiting, Dehydration |
ORPHA:79134 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Constipation, Weight loss |
ORPHA:168816 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Cachexia, Malabsorption, Diarrhea, Pedal edema, Depression |
ORPHA:3452 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:767 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... |
ORPHA:97283 |
Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati... |
ORPHA:97261 |
Hereditary Late-Onset Parkinson Disease |
|
Depression, Bradykinesia, Chronic constipation, Weight loss, Apathy, Dysphagia |
ORPHA:411602 |
Isolated Complex I Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Vomiting, Lethargy |
ORPHA:2609 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Pleural effusion, Weight loss |
ORPHA:2902 |
Argininosuccinic Aciduria |
|
Lethargy, Failure to thrive, Vomiting, Cerebral edema |
OMIM:207900 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Constipation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Vomiting, Lethargy, Episodic vomiting, Cerebral edema |
OMIM:618321 |
Glycerol Kinase Deficiency |
|
Short stature, Small for gestational age, Cryptorchidism, Growth delay, Lethargy, Episodic vomiting |
OMIM:307030 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Lethargy, Failure to thrive in infancy |
ORPHA:746 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Polyhydramnios, Ascites, Intrauterine growth retardation, Failure to thrive, Lethargy |
OMIM:617156 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss |
ORPHA:654 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss |
ORPHA:3208 |
Meningococcal Meningitis |
|
Lethargy, Projectile vomiting |
ORPHA:33475 |
Wilson Disease |
|
Increased body weight, Weight loss, Depression, Joint swelling, Failure to thrive |
ORPHA:905 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema |
ORPHA:188 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Weight loss |
ORPHA:3287 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting, Dehydration |
ORPHA:230 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy, Pleural effusion, Pleural empyema |
ORPHA:36238 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Diarrhea, Weight loss, Chronic constipation, Inflammation of... |
OMIM:301074 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Oligomeganephronia |
|
Small for gestational age, Dehydration |
ORPHA:2260 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:275000 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Polyhydramnios, Dehydration, Vomiting, Severe failure to thrive, Failu... |
ORPHA:89938 |
Rett Syndrome |
|
Cachexia, Constipation, Gastroesophageal reflux, Short stature |
OMIM:312750 |
Immunodeficiency 27A |
|
Diarrhea, Weight loss |
OMIM:209950 |
Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Small for gestational age, Polyhydramnios, Diarrhea, Dehydration, Constipation, Vo... |
OMIM:241200 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Polycystic ovaries, Vomiting, Lethargy, Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Juvenile Nephropathic Cystinosis |
|
Growth delay, Failure to thrive, Vomiting, Dehydration |
ORPHA:411634 |
Neuroleptic Malignant Syndrome |
|
Vomiting, Nausea, Dehydration, Dysphagia |
ORPHA:94093 |
Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea, Dehydration |
ORPHA:31824 |
Posterior Urethral Valve |
|
Postnatal growth retardation, Lethargy, Oligohydramnios |
ORPHA:93110 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive |
OMIM:201470 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Gastroparesis, Xerostomia... |
ORPHA:85443 |
Hereditary Fructose Intolerance |
|
Diarrhea, Growth delay, Constipation, Vomiting, Lethargy, Nausea |
ORPHA:469 |
Neuroendocrine Tumor Of The Rectum |
|
Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation |
ORPHA:100082 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Medulloblastoma |
|
Lethargy, Adenomatous colonic polyposis |
ORPHA:616 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Orchitis, Odynophagia, Diarrhea, Dehydration, Bloody d... |
ORPHA:99826 |
Gm1 Gangliosidosis |
|
Short stature, Hydrops fetalis, Weight loss, Macroglossia, Gastroesophageal reflux, Dysphagia, Fa... |
ORPHA:354 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Weight loss, Protracted diarrhea, Bloody diarrhea |
ORPHA:100080 |
Caroli Disease |
|
Cholangiocarcinoma, Esophageal varix, Weight loss, Vomiting, Cholelithiasis, Ascites, Nausea |
ORPHA:53035 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Malabsorption, Weight loss, Gastroesophageal reflux, Dysphagia |
ORPHA:183 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Anasarca, Weight loss |
ORPHA:160 |
Polymyositis |
|
Gastrointestinal hemorrhage, Constipation, Gastroesophageal reflux, Weight loss |
ORPHA:732 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:188580 |
Non-Functioning Paraganglioma |
|
Nausea, Weight loss |
ORPHA:94080 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Short stature, Cachexia, Constipation, Severe failure to thrive, Intrauterine growth retardation |
ORPHA:371364 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Nausea, Weight loss |
ORPHA:100086 |
Diamond-Blackfan Anemia |
|
Short stature, Cleft soft palate, Small for gestational age, Nonimmune hydrops fetalis, Growth de... |
ORPHA:124 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Macroglossia, Constipation, Ectopic thyroid, Lethargy, Thyroid hypoplasia, Goiter |
OMIM:218700 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Growth delay, Vomiting, Lethargy, Failure to thrive, Cerebral edema |
OMIM:252010 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Short stature, Failure to thrive in infancy, Bowel incontinence |
ORPHA:702 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Vomiting |
OMIM:253270 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Goiter |
OMIM:613239 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
Scrub Typhus |
|
Lethargy |
ORPHA:83317 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, High palate, Intrauterine grow... |
ORPHA:251071 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:395 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Ulcerative colitis, Weight loss |
ORPHA:99867 |
Imerslund-Gräsbeck Syndrome |
|
Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis |
ORPHA:35858 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Weight loss, Neoplasm of the liver, Ascites, Nausea |
ORPHA:100085 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Short stature, Testicular adrenal rest tumor, Dehydration, Weight loss, Vomiting, Failure to thri... |
ORPHA:90794 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Weight loss |
ORPHA:3226 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Vomiting, Lethargy, Failure to thrive, Nausea |
OMIM:229600 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine growth retardation, Fa... |
ORPHA:217346 |
Biotinidase Deficiency |
|
Lethargy, Diarrhea, Vomiting |
OMIM:253260 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Depression, Wei... |
ORPHA:171 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Pancreatic calcification, Weight loss, Vomiting, Abnormal pancreatic d... |
ORPHA:103918 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, We... |
ORPHA:537 |
Encephalitis Lethargica |
|
Lethargy, Bowel incontinence |
ORPHA:83600 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Lymphedema, N... |
ORPHA:109 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Dehydration, Weight loss |
ORPHA:3337 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Polyhydramnios, Cachexia |
ORPHA:2774 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Diarrhea, Vomiting, Steatorrhea, Lethargy,... |
ORPHA:470 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat... |
ORPHA:97289 |
Reactive Arthritis |
|
Diarrhea, Weight loss, Joint swelling, Inflammation of the large intestine, Recurrent aphthous st... |
ORPHA:29207 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive, Episodic vomiting |
ORPHA:415 |
Neuroendocrine Tumor Of Stomach |
|
Hematemesis, Protracted diarrhea, Melena, Bloody diarrhea, Weight loss, Zollinger-Ellison syndrom... |
ORPHA:100075 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Failure to thrive |
OMIM:277400 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Klatskin Tumor |
|
Cholangiocarcinoma, Weight loss |
ORPHA:99978 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Gastroparesis, Weight loss, Depression, Dysphagia |
OMIM:607459 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Constipation, Vomiting, Ley... |
ORPHA:361 |
Rheumatoid Arthritis |
|
Joint swelling, Weight loss |
OMIM:180300 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Hematemesis, Pericardial effusion, Diarrhea, Bloody diarrhea, Hematoch... |
OMIM:615846 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Coli... |
ORPHA:37042 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Pericardial effusion, Weight loss, Ascites, Intrauterine growth retardation, Failure to th... |
OMIM:619487 |
Hydranencephaly |
|
Postnatal growth retardation, Intrauterine growth retardation, Lethargy, Atrophic pituitary gland |
ORPHA:2177 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Weight loss, Depression |
OMIM:137440 |
Kufor-Rakeb Syndrome |
|
Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy |
ORPHA:306674 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Aredyld Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:1133 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Episodic vomiting |
OMIM:615751 |
Giant Cell Arteritis |
|
Gastrointestinal infarctions, Weight loss, Glossitis, Depression |
ORPHA:397 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Diarrhea, Nausea, Weight loss |
ORPHA:98849 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive |
ORPHA:1329 |
Nodular Non-Suppurative Panniculitis |
|
Edema, Weight loss |
ORPHA:33577 |
Poems Syndrome |
|
Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Increased circulating prolac... |
ORPHA:2905 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
ORPHA:159 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Failure to thrive, Weight loss |
OMIM:256700 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Trisomy 18 |
|
Short stature, Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Growth ... |
ORPHA:3380 |
Pancreatoblastoma |
|
Diarrhea, Vomiting, Pancreatic calcification, Weight loss |
ORPHA:677 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Esophageal stricture, Weight loss, Dysphagia |
ORPHA:36426 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Infantile Krabbe Disease |
|
Gastroesophageal reflux, Failure to thrive, Vomiting, Cachexia |
ORPHA:206436 |
Addison Disease |
|
Hypoparathyroidism, Primary testicular failure, Celiac disease, Diarrhea, Weight loss, Constipati... |
ORPHA:85138 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... |
ORPHA:143 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Ascites, Weight loss, Ovarian neoplasm |
ORPHA:370348 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy |
OMIM:620306 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Weight loss |
ORPHA:514 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Nausea, Adrenal pheochromocytoma |
ORPHA:276621 |
Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Vomiting, Nausea, Cerebral edema |
ORPHA:68 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Weight loss, Malabsorption |
ORPHA:79430 |
Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Crypt... |
ORPHA:84 |
Pneumocystosis |
|
Pleural effusion, Weight loss |
ORPHA:723 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Cachexia, Obesity, High palate, Decreased testicular size |
ORPHA:85293 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Dysphagia |
ORPHA:300605 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Palpebral edema, Weight loss, Constipation, Dysphagia |
ORPHA:93672 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:729 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Bronchial Neuroendocrine Tumor |
|
Weight loss, Elevated circulating growth hormone concentration, Protracted diarrhea |
ORPHA:97287 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Short Syndrome |
|
Severe short stature, Weight loss |
ORPHA:3163 |
Chronic Graft Versus Host Disease |
|
Diarrhea, Esophageal stricture, Xerostomia, Weight loss, Pleural effusion, Abnormal esophagus mor... |
ORPHA:99921 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:91139 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Facial edema, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargement of ... |
ORPHA:79078 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Short stature, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Anal a... |
ORPHA:647 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... |
ORPHA:2298 |
Acute Promyelocytic Leukemia |
|
Stomatitis, Weight loss |
ORPHA:520 |
Xfe Progeroid Syndrome |
|
Ascites, Failure to thrive, Severe short stature, Cachexia |
OMIM:610965 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Vomiting, Pedal edema, Weight loss |
ORPHA:284 |
Biotinidase Deficiency |
|
Lethargy |
ORPHA:79241 |
Brucellosis |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Orchitis, Depression, Weigh... |
ORPHA:1304 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Enlarged lacrimal glands, Weight loss, Pleural effusion, Inflammation of th... |
OMIM:181000 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Nausea, Adrenal pheochromocytoma |
ORPHA:29072 |
Multiple Myeloma |
|
Pleural effusion, Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss |
ORPHA:1501 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Angioedema, Weight loss |
ORPHA:139402 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Rat-Bite Fever |
|
Diarrhea, Vomiting, Parotitis, Weight loss |
ORPHA:31205 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Malabsorption, Orchitis, Weight loss, Recurrent aphthous stomatitis,... |
ORPHA:117 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Short stature, Hydrops fetalis, Weight loss |
OMIM:613673 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Constipation, Pedal edema, Weight loss |
ORPHA:49041 |
Congenital Fiber-Type Disproportion Myopathy |
|
Polyhydramnios, Weight loss, High palate, Dysphagia, Failure to thrive |
ORPHA:2020 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm... |
ORPHA:99889 |
Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Weight loss |
ORPHA:400 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pericardial effusion... |
ORPHA:91347 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Short hard palate, Short stature |
ORPHA:1969 |
Acute Adrenal Insufficiency |
|
Diarrhea, Weight loss, Constipation, Delayed puberty, Failure to thrive |
ORPHA:95409 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Mild postnatal growth retardation, Weight loss |
ORPHA:85408 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Periorbital edema, Intestinal obstruction, Weight loss |
ORPHA:900 |
Mucolipidosis Type Ii |
|
Postnatal growth retardation, Short stature, Oligohydramnios, Weight loss |
ORPHA:576 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, High palate, Dysphagia |
OMIM:164310 |
Riddle Syndrome |
|
Diarrhea, Short stature, Weight loss |
ORPHA:420741 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy, Odynophagia, Esophageal spasms, Dysphagia |
ORPHA:447 |
Renal Nutcracker Syndrome |
|
Nausea, Weight loss |
ORPHA:71273 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Vomiting, Nausea |
ORPHA:466650 |
Schwartz-Jampel Syndrome |
|
Short stature, Cachexia, Polyhydramnios, Cleft palate, High palate, Decreased body weight, Testic... |
ORPHA:800 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Periorbital edema, Edema, Weight loss |
ORPHA:221 |
Q Fever |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:781 |
Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
Postinfectious Vasculitis |
|
Orchitis, Unusual gastrointestinal infection, Weight loss, Gastrointestinal inflammation |
ORPHA:48435 |
Eisenmenger Syndrome |
|
Pedal edema, Peripheral edema, Lethargy, Ascites, Generalized edema |
ORPHA:97214 |
Pineoblastoma |
|
Lethargy, Pinealoma |
ORPHA:251909 |
Erdheim-Chester Disease |
|
Joint swelling, Pleural effusion, Weight loss |
ORPHA:35687 |
Malt Lymphoma |
|
Constipation, Weight loss |
ORPHA:52417 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Palpebral edema, Weight loss, Enlargement of parotid g... |
ORPHA:50918 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Thyrotoxic Periodic Paralysis |
|
Constipation, Obesity, Weight loss |
ORPHA:79102 |
Choreoacanthocytosis |
|
Protruding tongue, Dysphagia, Depression, Bradykinesia, Weight loss, Apathy, Self-neglect |
ORPHA:2388 |
Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Esophageal varix, Growth delay, Gastric ulcer, Delayed puberty, Cholelithiasis |
ORPHA:2072 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Pulmonary Alveolar Microlithiasis |
|
Peripheral edema, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Cockayne Syndrome |
|
Severe short stature, Cachexia, Postnatal growth retardation, Cryptorchidism, Growth delay, Gastr... |
ORPHA:191 |
Stickler Syndrome |
|
Short stature, Slender build, Cachexia, Cleft palate, Macroglossia, Glossoptosis, Gastroesophagea... |
ORPHA:828 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Enlarged lacrimal glands, Weight loss, Enlargement of ... |
ORPHA:797 |
Nocardiosis |
|
Pleural effusion, Peritonitis, Vomiting, Weight loss |
ORPHA:31204 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary, Pedal edema, Weight loss |
ORPHA:449395 |
African Trypanosomiasis |
|
Diarrhea, Weight loss, Abnormal prolactin level, Vomiting, Apathy, Nausea |
ORPHA:3385 |
Hutchinson-Gilford Progeria Syndrome |
|
Weight loss, High palate, Severe failure to thrive, Delayed menarche, Ankyloglossia |
ORPHA:740 |
Marfan Syndrome |
|
High, narrow palate, Cachexia, Slender build, Cleft palate |
ORPHA:558 |
Camurati-Engelmann Disease |
|
Slender build, Cachexia, Delayed puberty |
ORPHA:1328 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Macular edema, Cystoid macular edema, Weight loss |
ORPHA:91500 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Lymphedema, Ovari... |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
|
Peripheral edema, Ascites, Cachexia, Pedal edema |
ORPHA:75565 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia, Delayed puberty |
ORPHA:649 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |