Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, A... |
OMIM:606528 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Glucose/Galactose Malabsorption |
|
Glycosuria, Chronic diarrhea, Abnormal oral glucose tolerance, Malabsorption |
OMIM:606824 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... |
ORPHA:69076 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Mody |
|
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprand... |
ORPHA:2089 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Vomiting, Delayed puberty |
ORPHA:314811 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Diarrhea, Hyperinsulinemia, Renal Fanconi syndrome, Vomiting, Pancreatic islet-cell ... |
ORPHA:263455 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Hyper... |
ORPHA:2088 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... |
OMIM:616026 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Malabsorption, Hypercalciuria, Generalized aminoacidur... |
OMIM:227810 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsuline... |
ORPHA:2298 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71526 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu... |
OMIM:613404 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... |
ORPHA:35878 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi... |
ORPHA:276580 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci... |
ORPHA:47159 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Postnatal growth reta... |
ORPHA:453533 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short ... |
ORPHA:79106 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... |
ORPHA:369873 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly... |
ORPHA:276575 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia... |
OMIM:137920 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Short stature, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing o... |
ORPHA:2198 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Renal cyst, Steatorrhea, Proximal tubulopathy, Protein-losing enteropa... |
OMIM:602579 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... |
ORPHA:411629 |
Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Dysphagia, Abnormal thymus morphology, Glycosuria... |
ORPHA:589 |
Seckel Syndrome 10 |
|
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizing hormone level, In... |
OMIM:617253 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonat... |
OMIM:229600 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Malabsorption, Renal tubular dysfunction, Glucose intolerance, Glycosuria, Exocrine pancreatic in... |
OMIM:616539 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus |
OMIM:610947 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Hyperinsulinemic hyp... |
ORPHA:79319 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis |
OMIM:261650 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Short stature, Osteoporosis, Delayed thelarche, Delayed puberty, Hyperinsuline... |
OMIM:616033 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Urinary retention, Constipation, Hyp... |
ORPHA:2126 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea |
OMIM:615863 |
Mitchell-Riley Syndrome |
|
Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly p... |
OMIM:615710 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Aminoaciduria, Hypoglycemia |
ORPHA:664 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
Wilson Disease |
|
Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Hepatocellular carcinoma, Esophageal varix, N... |
OMIM:277900 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Blue Diaper Syndrome |
|
Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsulin:in... |
ORPHA:94086 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Tenorio Syndrome |
|
Hypoglycemia, Macroglossia, Enuresis, Gastroesophageal reflux, Recurrent aphthous stomatitis, Hyp... |
OMIM:616260 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimu... |
ORPHA:79644 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... |
ORPHA:79327 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Celiac disease, Abnormality of the thyroid gland, Primary adrenal insufficien... |
ORPHA:3143 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Short toe, Hyperinsulinemia, Obesity, Type II diab... |
ORPHA:3085 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance, Short stature, Short middle phalanx of finger, Anal atresia |
OMIM:309620 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... |
ORPHA:699 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Propionic Acidemia |
|
Constipation, Organic aciduria, Hypoglycemia |
ORPHA:35 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Diabetes mellitus, Intestinal malrotation, Glycosuria, Colon perforation, H... |
OMIM:600001 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Odynophagia, Chronic kidney... |
ORPHA:447 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Deviation of finger, Incre... |
ORPHA:1227 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Rickets, Femoral bowing, ... |
OMIM:600081 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Incre... |
OMIM:614736 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha... |
ORPHA:251992 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Decreased circulating parathyroid hormone level, Bowing of the legs, Delayed e... |
OMIM:241530 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short stature, Hyperinsulinemia, Short 5th metacarpal |
ORPHA:66518 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome |
OMIM:201910 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Renal hypoplasi... |
OMIM:611376 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Hyperinsul... |
ORPHA:785 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:264700 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:277440 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abnorma... |
ORPHA:2290 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Macroglossia, Protein-losing enteropathy, Increased circulating an... |
ORPHA:79320 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic acid... |
OMIM:248360 |
Atypical Werner Syndrome |
|
Renal neoplasm, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant d... |
ORPHA:79474 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia |
ORPHA:6 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone co... |
OMIM:131100 |
Cog8-Cdg |
|
Protein-losing enteropathy, Hypoglycemia |
ORPHA:95428 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Pr... |
ORPHA:2070 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Megacystis, Hydron... |
OMIM:155310 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
X-Linked Acrogigantism |
|
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... |
ORPHA:276152 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Thyroid carcinoma, Lymphoid... |
ORPHA:210548 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... |
ORPHA:139466 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Failur... |
ORPHA:79237 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Bone cyst, Hyperinsulinemia... |
ORPHA:528 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypoglycemia, Proteinuria, Mesangial hypercellularity, Hypothyroidis... |
OMIM:617575 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Hyperinsulinemia, Large hands, Severe failure t... |
OMIM:246200 |
Mandibuloacral Dysplasia |
|
Postnatal growth retardation, Abnormal tongue morphology, Insulin resistance, Insulin-resistant d... |
ORPHA:2457 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... |
ORPHA:95619 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Short stature, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossificati... |
OMIM:300554 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Scorpion Envenomation |
|
Ketonuria, Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Acute kidney injury |
ORPHA:466677 |
Perlman Syndrome |
|
High, narrow palate, Hypoplasia of penis, Hyperinsulinemia, Nephroblastoma |
ORPHA:2849 |
Chylomicron Retention Disease |
|
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea |
OMIM:246700 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose intolerance, Progres... |
OMIM:608612 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... |
OMIM:176270 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid... |
ORPHA:209964 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Impaired glucose tolerance, Down-sloping shoulders, Coxa valga, Postnatal growth reta... |
OMIM:248370 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Vomiting, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methylglutaric acid... |
OMIM:246450 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Diarrhea, Protein-losing enteropathy, Vomiting, Decreased circulating T4 concentration, Hypothyro... |
OMIM:608104 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... |
ORPHA:913 |
Scedosporiosis |
|
Diabetes mellitus, Abnormal renal morphology, Abnormal jejunum morphology |
ORPHA:449280 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Short stature, Precocious puberty, Insulin r... |
ORPHA:769 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalciuria, Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, ... |
OMIM:618440 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Pyloric stenosis, Insulin resistance, Ileus, Osteoporosis, Hyperinsulinemia, Dysphagi... |
OMIM:613327 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperactivity, Hyperinsulinemia |
ORPHA:363400 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Type I diabetes mellitus, Hypothyro... |
OMIM:304790 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Diarrhea, Fasting hyperinsulinemia, Hypoglycemic seizures, Vomiting, Hyper... |
ORPHA:71212 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisova... |
OMIM:210200 |
Immunodeficiency 31C |
|
Villous atrophy, Diabetes mellitus, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enter... |
OMIM:614162 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hypoglycemia, Hyperglycinuria, Vomiting |
OMIM:201450 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Elevated circulating thyroid-stimulating hormone concentration, Secretory diarrhea, Hem... |
OMIM:618183 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Sho... |
ORPHA:221008 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Diarrhea, Vo... |
ORPHA:230 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Central hypothyroidis... |
OMIM:616113 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Elevated urinary epine... |
OMIM:162300 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Long fibula, Abnormal metaphy... |
ORPHA:935 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidis... |
ORPHA:95496 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Polycystic kidney dysplasia |
OMIM:173900 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce... |
OMIM:232200 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft pala... |
OMIM:115470 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peritonitis, Bloody ... |
ORPHA:90038 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Episodic vomiting, Lacticaciduri... |
OMIM:615751 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Leprechaunism |
|
Postnatal growth retardation, Insulin resistance, Rectal prolapse, Hyperinsulinemia, Megarectum, ... |
ORPHA:508 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Hypoglycemia, Proteinuria, Stomatitis, Hematuria, Focal segmental glomerulos... |
OMIM:232240 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Apl... |
ORPHA:221016 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Celiac disease, Diarrhea,... |
ORPHA:199299 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Chronic diarrhea, Hypercalciuria, 3-Methylglutaric aciduria, Rena... |
OMIM:557000 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad... |
ORPHA:85138 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Fat malabsorption, Renal cyst, Steatorrhea |
ORPHA:79303 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Inflammation of t... |
OMIM:232220 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis |
OMIM:614602 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Diarrhea, Type I diabetes mellitus, Fat malabsorption, Diabetes insipidus |
ORPHA:96180 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
Autoinflammation With Infantile Enterocolitis |
|
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis |
OMIM:616050 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Colitis |
OMIM:209920 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Disproportionate short sta... |
ORPHA:93317 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroe... |
ORPHA:93932 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Diarrhea, Steatorrhea |
OMIM:607765 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Thyroid lymphangiectasia, Rectal prolapse, Narrow palate, Horseshoe kidney, Prote... |
OMIM:235510 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Renal insufficiency, Hypoglycemia, Paralytic ileus, Nephrocalcinosis... |
OMIM:276700 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short stature, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Ir... |
OMIM:610442 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Neoplasm of the adrenal cortex, Hypoglycemia, Abnormal large intestine morp... |
ORPHA:109 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Secre... |
OMIM:619377 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Thyroiditis, Inflammation of the large int... |
OMIM:614700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:99226 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Cleft palate, High palate, Protein-losing enteropathy, Micropenis, Hydr... |
OMIM:235255 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Bloody diarrhea, Rectal... |
ORPHA:436252 |
Perlman Syndrome |
|
Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Nephroblastoma, Nephroblas... |
OMIM:267000 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Thyroiditis, Type I diabetes mellitus, Hypothyroidism |
OMIM:606367 |
Chylomicron Retention Disease |
|
Fat malabsorption, Vomiting, Diarrhea, Steatorrhea |
ORPHA:71 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Abnormality of the endocrine system, Diarrhea, Esophageal carcinoma, Functional ... |
ORPHA:391487 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Diarrhea |
OMIM:211600 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Diabetes mellitus, Gastritis, Hematemesis, Diar... |
ORPHA:73263 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Proteinuria |
ORPHA:79086 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Small for gestational ag... |
ORPHA:2909 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde... |
ORPHA:512 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ... |
ORPHA:731 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Proteinuria, Hypergonadotropic hypogonadism, Diarrhea, Renal cyst, Nephrotic syn... |
OMIM:212065 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Insulin... |
OMIM:608594 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis |
ORPHA:2470 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Dextrocardia |
|
Meckel diverticulum, Abnormality of the ureter, Intestinal malrotation, Abnormal renal morphology |
ORPHA:1666 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Gastroesophagea... |
OMIM:620185 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Functional abnormality of the bladder, Nephrolithiasis, Cleft palate,... |
ORPHA:2953 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Hypospadias, Maternal diabetes, Horseshoe kidney, Ante... |
ORPHA:1708 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, High palate, Protein-losing enteropathy, Micropenis, Hydronephrosis |
ORPHA:1655 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Meckel diverticulum, H... |
OMIM:311900 |
Isolated Biliary Atresia |
|
Dark yellow urine, Acholic stools, Fat malabsorption, Hypopituitarism, Hypothyroidism |
ORPHA:30391 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Vomiting |
OMIM:619510 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... |
ORPHA:90362 |
Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cystic angiomatosis of bone, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes... |
OMIM:269700 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:90695 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... |
OMIM:265380 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Aganglionic megacolon, Hypospadias, Renal insuff... |
ORPHA:84 |
Tarp Syndrome |
|
Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Hydro... |
ORPHA:2886 |
Fryns Syndrome |
|
Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Renal agenesis,... |
OMIM:229850 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Hypopituitarism, Diabetes mellitus, Decreased response... |
ORPHA:811 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Hypospadias, Cleft palate, Duodenal stenosis, Anteriorly place... |
OMIM:617063 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Cle... |
OMIM:219000 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Renal hypoplasia, Bloody diarrhea, Colitis, Hypoplasia of the thymus,... |
ORPHA:84064 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Abnormal circulating thyroid ... |
OMIM:619991 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, High palate, Constipatio... |
OMIM:601776 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulatio... |
ORPHA:273 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Mult... |
ORPHA:90349 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Trisomy 8P |
|
Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Nephrocalcinosis, Hydronephrosis, Co... |
ORPHA:264450 |
Abetalipoproteinemia |
|
Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Hypothyroidism |
ORPHA:14 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Dilatation of the renal pelvis, Cleft palate, Horseshoe ... |
OMIM:274000 |
Genitopatellar Syndrome |
|
Anal stenosis, Multicystic kidney dysplasia, Malrotation of small bowel, Anteriorly placed anus, ... |
OMIM:606170 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Vomiting, Small bowel diverticula |
ORPHA:90348 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... |
OMIM:619381 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cleft palate, Narrow palat... |
OMIM:312870 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Diarrhea, Nephrolithiasis, Hematuria, Vomiting |
ORPHA:35710 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Malrotation of small bowel, Cleft palate, Gastroesophageal reflux |
OMIM:194190 |
Pmm2-Cdg |
|
Osteopenia, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Lon... |
ORPHA:79318 |