Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Gaba-Transaminase Deficiency |
|
Lethargy, Downslanted palpebral fissures, Death in childhood |
OMIM:613163 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Let... |
ORPHA:276608 |
Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Death in childhood |
OMIM:618683 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi... |
ORPHA:276580 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Riboflavin Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:615026 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Neonatal Hemochromatosis |
|
Blepharophimosis, Hypoglycemia |
ORPHA:446 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, Death in childhood |
OMIM:246900 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276556 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:610006 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Ptosis |
ORPHA:171706 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ... |
ORPHA:276575 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis, Pneumothorax, Aspira... |
ORPHA:70588 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Death in childhood |
OMIM:618224 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Ketotic hypoglycemia |
ORPHA:26792 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Lethargy, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in infancy, Postnatal growth retardation, Death in childhood, Intrauterine growth retardati... |
OMIM:615440 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Hyaline membranes |
OMIM:617065 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia |
ORPHA:67046 |
Endocardial Fibroelastosis |
|
Telecanthus, Hypoglycemia |
ORPHA:2022 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Atelectasis, Blepharophimosis, Downslanted palpebral fissures, Thick eyebrow |
ORPHA:896 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Glycine Encephalopathy 1 |
|
Lethargy, Death in infancy |
OMIM:605899 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in infancy, Synophrys, Long eyelashes, Death in childhood, Lethargy |
OMIM:619064 |
Early Myoclonic Encephalopathy |
|
Lethargy, Recurrent respiratory infections |
ORPHA:1935 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Cachexia |
ORPHA:157973 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Hypoglycemia, Death in infancy |
OMIM:619386 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Death in childhood, Lethargy, Ptosis |
OMIM:618225 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Glycogen Storage Disease Vi |
|
Hypoglycemia |
OMIM:232700 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Bilateral ptosis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Epicanthus, Hypoglycemia |
OMIM:614741 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Asbestos Intoxication |
|
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... |
ORPHA:2302 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... |
ORPHA:97279 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Hypoglycemia |
OMIM:618120 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy |
OMIM:610498 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Epicanthus |
ORPHA:324581 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hypoglycemia |
OMIM:616483 |
Mcdonough Syndrome |
|
Short stature, Cachexia |
ORPHA:2471 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia |
ORPHA:293964 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Pneumonia, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Pl... |
ORPHA:36238 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Diabetes mellitus |
ORPHA:79230 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... |
OMIM:610978 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Hypoketotic hypoglycemia |
OMIM:600649 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Christianson Syndrome |
|
Death in early adulthood, Cachexia |
ORPHA:85278 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures |
OMIM:620211 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Ptosis |
OMIM:613561 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Lethargy, Fasting hypoglycemia, Glycosuria, Hyperinsulinemic hypoglycemia, Neon... |
ORPHA:263455 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... |
ORPHA:2902 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:620233 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Hypoglycemia |
ORPHA:163693 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Ptosis |
ORPHA:101150 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Upslanted palpebral fissure, Hypoglycemia |
OMIM:617950 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diabetes mellitus |
ORPHA:49827 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Atelectasis, Death in infancy |
OMIM:300219 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Hypoglycemia |
OMIM:201450 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hypoglycemia |
ORPHA:364 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Hypoglycemia |
ORPHA:156 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Renpenning Syndrome |
|
Growth delay, Severe short stature, Cachexia |
ORPHA:3242 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Hypoglycemia |
ORPHA:2394 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Maple Syrup Urine Disease |
|
Lethargy, Hypoglycemia |
OMIM:248600 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Diarrhea 13 |
|
Recurrent hypoglycemia |
OMIM:620357 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Upslanted palpebral fissure, Long eyelashes, Hypoglycemia |
ORPHA:231137 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Hypoglycemia |
OMIM:620137 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Ptosis |
OMIM:618958 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Long eyelashes, Hypoglycemia |
ORPHA:48431 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:231140 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Death in childhood |
OMIM:611523 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Recurrent hypoglycemia, Lethargy |
OMIM:212140 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Ptosis |
OMIM:312170 |
Tetrasomy 12P |
|
Short stature, Cachexia |
ORPHA:884 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Ptosis |
OMIM:618226 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Epicanthus |
OMIM:250620 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:229700 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia |
OMIM:618186 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Wolman Disease |
|
Growth delay, Cachexia |
ORPHA:75233 |
Mehmo Syndrome |
|
Hypoglycemia |
OMIM:300148 |
Hereditary Central Diabetes Insipidus |
|
Lethargy |
ORPHA:30925 |
Aredyld Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:1133 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy |
OMIM:237310 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Lethargy, Death in infancy |
OMIM:201475 |
Classic Galactosemia |
|
Lethargy, Hypoglycemia, Depression |
ORPHA:79239 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:210200 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Hypoketotic hypoglycemia |
OMIM:255120 |
Central Diabetes Insipidus |
|
Lethargy, Depression |
ORPHA:178029 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:28 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal death, Death in infancy, Hypoglycemia, Death in childhood |
OMIM:245400 |
Dihydropyrimidinase Deficiency |
|
Lethargy |
OMIM:222748 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse eyelashes, Hypoglycemia, Blepharophimosis, Downslanted palpebral fissures,... |
OMIM:619075 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia |
ORPHA:42 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hypoglycemia, Neonatal hypoglycemia |
OMIM:212138 |
Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Int... |
ORPHA:813 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Hypoglycemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Hypoglycemia |
OMIM:618839 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Neonatal hypoglycemia, Ptosis |
OMIM:619046 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Pyruvate Dehydrogenase Deficiency |
|
Upslanted palpebral fissure, Lethargy, Epicanthus |
ORPHA:765 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia |
OMIM:619048 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Stillbirth, Death in childhood, Neonatal death, Lethargy |
OMIM:614922 |
Glycogen Storage Disease Iii |
|
Hypoglycemia |
OMIM:232400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Lethargy, Ptosis |
OMIM:615838 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Houge-Janssens Syndrome 1 |
|
Downslanted palpebral fissures, Hypoglycemia, Ptosis |
OMIM:616355 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Lethargy, Neonata... |
ORPHA:71212 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
19Q13.11 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia |
ORPHA:217346 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Apathy, Hypoglycemia, Death in childhood |
OMIM:246450 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Epicanthus, Hypoglycemia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Leth... |
OMIM:607143 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia |
ORPHA:289504 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia |
OMIM:617872 |
Propionic Acidemia |
|
Lethargy, Hypoglycemia |
OMIM:606054 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia |
OMIM:261750 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:251000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Hypoglycemia, Pulmonary hypoplasia, Glycosuria, Neonatal death |
OMIM:231680 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Farber Disease |
|
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections, Dif... |
ORPHA:333 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Typhoid |
|
Lethargy, Abnormal pulmonary interstitial morphology |
ORPHA:99745 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Pleural effusion, Hypoglycemia |
OMIM:617049 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thick eyebrow, Fasting hypoglycemia |
ORPHA:436174 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pleural effusion, Hypoglycemia |
OMIM:614702 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Hemochromatosis, Neonatal |
|
Hypoglycemia |
OMIM:231100 |
Shashi-Pena Syndrome |
|
Epicanthus, Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis |
OMIM:617190 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Congenital bilateral ptosis, Insulin resistance, Hypoglycemia, Ptosis |
ORPHA:73272 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Tenorio Syndrome |
|
Telecanthus, Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Hypoinsulinemia, Thic... |
OMIM:616260 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Epicanthus, Diabetes mellitus, Hypoglycemia, Synophrys, Downslanted palpebral fissures |
ORPHA:391408 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:615160 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia |
OMIM:266150 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Neonatal death, Lethargy, Death in infancy |
OMIM:605711 |
Ogden Syndrome |
|
Lethargy, Pulmonary artery stenosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of the ey... |
ORPHA:276432 |
Isolated Atp Synthase Deficiency |
|
Lethargy, Ptosis |
ORPHA:254913 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia |
OMIM:306000 |
Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
Basilicata-Akhtar Syndrome |
|
Telecanthus, Epicanthus, Downslanted palpebral fissures, Neonatal hypoglycemia |
OMIM:301032 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
Cholera |
|
Lethargy, Miscarriage, Hypoglycemia, Aspiration pneumonia |
ORPHA:173 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia |
OMIM:201910 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Necrotizing Enterocolitis |
|
Lethargy, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia |
ORPHA:369 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Epicanthus, Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Ptosis |
OMIM:608624 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia, Death in adolescence |
OMIM:610965 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Death in infancy |
OMIM:614299 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy |
ORPHA:289916 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Isolated Complex I Deficiency |
|
Lethargy, Diabetes mellitus, Hypoglycemia, Ptosis |
ORPHA:2609 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Ptosis |
OMIM:615453 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability |
ORPHA:100 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Hypoketotic hypoglycemia |
OMIM:609015 |
Fanconi Anemia, Complementation Group P |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage |
OMIM:617052 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Death in infancy, Hypoglycemia |
OMIM:620300 |
Hypercalcemia, Infantile, 1 |
|
Lethargy |
OMIM:143880 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Neoplasm of the lung, Recurrent hypoglycemia, Neoplasia of the pleura, Hypoinsulinemia |
ORPHA:2126 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Hypotonia-Cystinuria Syndrome |
|
Long eyelashes, Neonatal hypoglycemia, Ptosis |
OMIM:606407 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Hypoglycemia, Death in childhood |
OMIM:611126 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Keratoconjunctivitis |
ORPHA:79242 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy |
ORPHA:79312 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Hypoglycemia, Death in adolescence, Death in childhood, Neonatal death, Neonata... |
OMIM:619055 |
Zygomycosis |
|
Diabetes mellitus, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, ... |
ORPHA:73263 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia |
OMIM:240200 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Retinal hamartoma, Atelectasis, Pneumothorax, Pulmonary infiltr... |
ORPHA:538 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Timothy Syndrome |
|
Hypoglycemia, Pneumonia, Bronchitis |
OMIM:601005 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Hyperglycemia, Diabetes mellitus, Apathy |
ORPHA:465508 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Atelectasis, Epicanthus, Pulmonary hypoplasia |
OMIM:269860 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Hirschsprung Disease |
|
Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Death in infancy |
OMIM:604377 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Recurrent hypoglycemia, Downslanted palpebral fissures |
OMIM:616817 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent viral upper respiratory tract infections, Recurrent pneumonia, Hypoglycemia, Recurrent ... |
OMIM:615577 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:210210 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Obesity, Cachexia |
ORPHA:85293 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy |
OMIM:238970 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia |
ORPHA:79096 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Temple Syndrome |
|
Recurrent hypoglycemia, Type II diabetes mellitus |
ORPHA:254516 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Lethargy, Hypoglycemia, Death in infancy |
OMIM:608836 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Emp... |
OMIM:613177 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Citrullinemia Type I |
|
Lethargy |
ORPHA:247525 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy |
ORPHA:927 |
Laron Syndrome |
|
Hypoglycemia |
ORPHA:633 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:27 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:600901 |
Smith-Kingsmore Syndrome |
|
Downslanted palpebral fissures, Hypoglycemia |
OMIM:616638 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Pneumonia, Hypoketotic hypoglycemia |
ORPHA:26793 |
Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia |
OMIM:618838 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Ground-glass opacification, Desquamative interstitial pneumonitis, Intraalveola... |
OMIM:265120 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227650 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Death in infancy, Sparse eyelashes, Hypoketotic hypoglycemia |
OMIM:610768 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy |
OMIM:611590 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Almond-shaped palpebral fissure, Lethargy, Recurrent respiratory infections, Type II diabetes mel... |
ORPHA:398079 |
Erythrokeratodermia Variabilis |
|
Short stature, Weight loss |
ORPHA:317 |
Reni Syndrome |
|
Hypoglycemia, Ptosis |
OMIM:617575 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy |
OMIM:614857 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Slender build, Cachexia, Weight loss |
OMIM:603041 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia |
OMIM:201400 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia |
ORPHA:453533 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Hypoglycemia |
ORPHA:95496 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Hypoketotic hypoglycemia |
ORPHA:746 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Pleural effusion |
OMIM:617397 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy, Hypoglycemia, Death in infancy |
OMIM:617156 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Ptosis |
OMIM:607483 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoglycemia |
OMIM:620275 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Lethargy, Recurrent hypoglycemia, Apathy |
ORPHA:20 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:79644 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227645 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:237300 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Hypoglycemia |
OMIM:615751 |
22Q11.2 Deletion Syndrome |
|
Telecanthus, Bipolar affective disorder, Epicanthus, Abnormal eyelid morphology, Atelectasis, Abn... |
ORPHA:567 |
Fanconi Anemia, Complementation Group F |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Bipolar affective disorder, Depression, Bradykinesia, Glucose intolerance, Let... |
ORPHA:254892 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyp... |
ORPHA:2298 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypoglycemia |
ORPHA:79237 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures |
ORPHA:199296 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Sparse eyebrow, Abnormal lung morphology, Downslanted palpebral fissures, Neona... |
ORPHA:35173 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypoglycemia, Glycosuria |
OMIM:616026 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia |
OMIM:617710 |
Dopamine Beta-Hydroxylase Deficiency |
|
Bilateral ptosis, Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Lethargy, Ptosis |
OMIM:608643 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia |
ORPHA:95619 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Whipple Disease |
|
Cachexia |
ORPHA:3452 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia |
ORPHA:391428 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Hypoglycemia, Upslanted palpebral fissure, Lethargy, Ptosis |
OMIM:252010 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Almond-shaped palpebral fissure, Lethargy, Recurrent respiratory infections, Type II diabetes mel... |
ORPHA:398069 |
Hereditary Fructose Intolerance |
|
Lethargy, Reactive hypoglycemia |
ORPHA:469 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Lethargy, Hypoglycemia |
ORPHA:199299 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures |
OMIM:262600 |
Cog8-Cdg |
|
Hypoglycemia |
ORPHA:95428 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hypoglycemia, Neonatal hypoglycemia |
OMIM:613986 |
Kabuki Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Eversion of lateral th... |
OMIM:300867 |
Renal Hypoplasia, Bilateral |
|
Lethargy, Glycosuria |
ORPHA:97362 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Epicanthus, Pulmonary hypoplasia |
ORPHA:1848 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia |
ORPHA:348 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Trisomy 18 |
|
Growth delay, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:3380 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy |
ORPHA:2169 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood |
OMIM:618278 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Chand Syndrome |
|
Atelectasis, Ankyloblepharon |
ORPHA:1401 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia |
OMIM:614736 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Upslanted palpebral fissure, Telecanthus, Hypoglycemia, Ptosis |
OMIM:620224 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia |
OMIM:616113 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Apathy |
ORPHA:134 |
Lujo Hemorrhagic Fever |
|
Atelectasis |
ORPHA:319213 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227646 |
Dengue Fever |
|
Lethargy |
ORPHA:99828 |
Meningococcal Meningitis |
|
Lethargy |
ORPHA:33475 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Upslanted palpebral fissure, Death in infancy, Hypoglycemia, Short palpebral fissure |
OMIM:608779 |
Scrub Typhus |
|
Lethargy |
ORPHA:83317 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Cachexia |
ORPHA:109 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections |
ORPHA:258 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy, Epicanthus |
OMIM:277380 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Ptosis |
OMIM:223360 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Recurrent respiratory infections, Atelectasis, Depression, Upslanted palpebral ... |
ORPHA:534 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram |
OMIM:306400 |
Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss |
ORPHA:3208 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia |
OMIM:202200 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Short stature, Cachexia, Decreased body weight |
ORPHA:800 |
Bone Dysplasia, Lethal Holmgren Type |
|
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss |
ORPHA:1842 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Death in childhood |
OMIM:618321 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... |
ORPHA:2088 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Downslanted palpebral fissures, Neonatal hypoglycemia |
ORPHA:457485 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Depression |
ORPHA:99832 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Death in infancy, Hypoglycemia |
OMIM:619355 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Epicanthus, Palpebral edema, Death in adolescence, Lethargy |
OMIM:614866 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Hypoglycemia |
ORPHA:26791 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Icf Syndrome |
|
Abnormality of chromosome stability |
ORPHA:2268 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Ptosis |
ORPHA:365 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Depression, Recurrent hypoglycemia, Neonatal death, Hyperglycemia, Ptosis |
OMIM:124000 |
Biotinidase Deficiency |
|
Lethargy, Conjunctivitis |
OMIM:253260 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia |
ORPHA:397590 |
Trichinellosis |
|
Lethargy, Conjunctival hyperemia, Conjunctivitis, Apathy |
ORPHA:863 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Downslanted palpebral fissures, Hypoglycemia |
ORPHA:457279 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Keratoconjunctivitis sicca, Hypoglycemia, Thick eyebrow, Ptosis |
OMIM:616007 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Silver-Russell Syndrome 1 |
|
Fasting hypoglycemia |
OMIM:180860 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hypoglycemia, Fasting hypoglycemia |
OMIM:232200 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Holoprosencephaly |
|
Epicanthus, Diabetes mellitus, Hypoglycemia, Highly arched eyebrow, Synophrys, Upslanted palpebra... |
ORPHA:2162 |
D-Glyceric Aciduria |
|
Hypoglycemia |
OMIM:220120 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia |
OMIM:617600 |
Citrullinemia Type Ii |
|
Lethargy, Mania |
ORPHA:247585 |
Glycerol Kinase Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:307030 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Hypoglycemia, Pulmonary edema |
ORPHA:137675 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Hypog... |
OMIM:233600 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Sotos Syndrome |
|
Sparse eyebrow, Glucose intolerance, Downslanted palpebral fissures, Neonatal hypoglycemia |
OMIM:117550 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Glutaric Acidemia I |
|
Hypoglycemia |
OMIM:231670 |
Medulloblastoma |
|
Neoplasm of the lung, Lethargy |
ORPHA:616 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Hypoglycemia |
OMIM:618005 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy |
OMIM:253270 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Lethargy, Death in childhood |
OMIM:557000 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy |
OMIM:201100 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Multiple pulmonary cysts, Epicanthus, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Hypoglycemia, Synophrys, Downslanted palpebral fissures, Ptosis |
OMIM:301066 |
Juvenile Polyposis Of Infancy |
|
Short stature, Cachexia |
ORPHA:79076 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Neonatal hypoglycemia |
ORPHA:445038 |
Mirage Syndrome |
|
Hypoglycemia, Aspiration pneumonia |
OMIM:617053 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Methylmalonic Aciduria, Cblb Type |
|
Lethargy |
OMIM:251110 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Lethargy, Hypoglycemia |
ORPHA:79282 |
Cockayne Syndrome |
|
Severe short stature, Cachexia, Postnatal growth retardation, Growth delay, Delayed puberty |
ORPHA:191 |
Biotinidase Deficiency |
|
Lethargy, Conjunctivitis |
ORPHA:79241 |
Pituitary Apoplexy |
|
Hypoglycemia, Ptosis |
ORPHA:95613 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
Nijmegen Breakage Syndrome |
|
Short stature, Cachexia |
ORPHA:647 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Encephalitis Lethargica |
|
Lethargy |
ORPHA:83600 |
Relapsing Polychondritis |
|
Atelectasis, Conjunctivitis |
ORPHA:728 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Weight loss |
ORPHA:171876 |
Amoebiasis Due To Free-Living Amoebae |
|
Respiratory tract infection, Lethargy, Conjunctival hyperemia, Pneumonia |
ORPHA:68 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy |
ORPHA:79284 |
Transcobalamin Ii Deficiency |
|
Lethargy |
OMIM:275350 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:47 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Oculodentodigital Dysplasia |
|
Upslanted palpebral fissure, Epicanthus, Hypoglycemia |
ORPHA:2710 |
Fructose Intolerance, Hereditary |
|
Lethargy, Hypoglycemia, Glycosuria |
OMIM:229600 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Fasting hypoglycemia |
ORPHA:264580 |
Digeorge Syndrome |
|
Bipolar affective disorder, Atelectasis, Recurrent pneumonia, Recurrent sinusitis, Blepharophimos... |
OMIM:188400 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Bradykinesia, Blepharospasm, Apathy, Lethargy |
ORPHA:306674 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Leigh Syndrome |
|
Hypoglycemia, Ptosis |
ORPHA:506 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Ketotic hypoglycemia, Fasting hypoglycemia |
ORPHA:79240 |
Familial Hypoaldosteronism |
|
Lethargy |
ORPHA:427 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Shigellosis |
|
Conjunctivitis, Hypoglycemia, Pneumonia |
ORPHA:810 |
Methylmalonic Aciduria, Cbla Type |
|
Lethargy |
OMIM:251100 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Pneumonia |
ORPHA:90790 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy |
ORPHA:395 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Depression |
ORPHA:90674 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia |
ORPHA:228305 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia |
ORPHA:565624 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Recurrent pneumonia |
ORPHA:1329 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia |
OMIM:618329 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Hypoglycemia, Ptosis |
ORPHA:17 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Neonatal hypoglycemia |
OMIM:616271 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia, Apathy |
ORPHA:3008 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia |
OMIM:617093 |
Camurati-Engelmann Disease |
|
Slender build, Cachexia, Delayed puberty |
ORPHA:1328 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia |
OMIM:616878 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hypoglycemia |
OMIM:232220 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Hypoglycemia |
ORPHA:226307 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Alg12-Cdg |
|
Recurrent respiratory infections, Epicanthus, Recurrent pharyngitis, Recurrent pneumonia, Recurre... |
ORPHA:79324 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia |
OMIM:251880 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Postnatal growth retardation, Weight loss, Delayed puberty, Failure to thrive |
OMIM:212750 |
Deeah Syndrome |
|
Death in infancy, Epicanthus, Neonatal hypoglycemia, Death in adolescence, Death in childhood, Sh... |
OMIM:619004 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Growth delay, Cachexia, Delayed puberty |
ORPHA:2072 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Weight loss |
ORPHA:95427 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Citrullinemia, Classic |
|
Lethargy |
OMIM:215700 |
Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy |
OMIM:277400 |
Congenital Disorder Of Glycosylation, Type It |
|
Hypoglycemia |
OMIM:614921 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Recurrent upper respiratory tract infections, Hypoglycemia |
OMIM:232240 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pharyngitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchi... |
ORPHA:293978 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia |
ORPHA:99901 |
Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:311250 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Obesity, Weight loss, Growth delay, Intrauterine growth retardation |
ORPHA:251071 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Stickler Syndrome |
|
Slender build, Short stature, Cachexia |
ORPHA:828 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia, Sparse eyebrow, Upslanted palpebral fissure, Shallow orbits, Downslanted p... |
ORPHA:457359 |
Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:361 |
Marburg Hemorrhagic Fever |
|
Lethargy, Conjunctival hyperemia, Hypoglycemia |
ORPHA:99826 |
Dilated Cardiomyopathy With Ataxia |
|
Neonatal hypoglycemia |
ORPHA:66634 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia |
OMIM:614501 |
Argininosuccinic Aciduria |
|
Lethargy |
OMIM:207900 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Hypoglycemia |
OMIM:256810 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability |
ORPHA:175 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia |
ORPHA:572798 |
Diamond-Blackfan Anemia |
|
Lethargy, Epicanthus, Ptosis |
ORPHA:124 |
Acute Adrenal Insufficiency |
|
Recurrent acute respiratory tract infection, Hypoglycemia |
ORPHA:95409 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Simpson-Golabi-Behmel Syndrome |
|
Downslanted palpebral fissures, Death in infancy, Epicanthus, Hypoglycemia |
ORPHA:373 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Gm1 Gangliosidosis |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:354 |
Sheehan Syndrome |
|
Hypoglycemia |
ORPHA:91355 |
Short Syndrome |
|
Severe short stature, Weight loss |
ORPHA:3163 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Costello Syndrome |
|
Epicanthus, Hypoglycemia, Pneumothorax, Downslanted palpebral fissures, Ptosis |
OMIM:218040 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Alobar Holoprosencephaly |
|
Lethargy, Apathy, Aspiration pneumonia, Depression |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Lethargy, Apathy, Aspiration pneumonia, Depression |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Lethargy, Apathy, Aspiration pneumonia, Depression |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Lethargy, Apathy, Aspiration pneumonia, Depression |
ORPHA:220386 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hypoglycemia, Hypoglycemic seizures |
ORPHA:79259 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy |
ORPHA:415 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Death in infancy, Neonatal hypoglycemia |
OMIM:617248 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Emphysema, Hypoglycemia, Abnormal pulmonary interstitial morphology |
OMIM:613658 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia |
OMIM:131100 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Lysinuric Protein Intolerance |
|
Lethargy, Intraalveolar phospholipid accumulation |
ORPHA:470 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Pulmonary fibrosis, Glycosuria |
ORPHA:3337 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Hypoglycemia, Highly arched eyebrow, Hyperglycemia, Pulmonary edema |
OMIM:220111 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal hypoglycemia |
ORPHA:90791 |
Familial Thrombocytosis |
|
Miscarriage, Weight loss |
ORPHA:71493 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy, Conjunctival icterus, Glycosuria |
ORPHA:447 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Fasting hypoglycemia |
ORPHA:96182 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia |
ORPHA:157 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Failure to thrive, Weight loss |
OMIM:619487 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pleural effusion, Neonatal hypoglycemia, Pulmonary edema |
OMIM:261740 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Perlman Syndrome |
|
Hypoglycemia |
OMIM:267000 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Weight loss |
ORPHA:90362 |
Lynch Syndrome |
|
Death in infancy, Death in early adulthood, Weight loss |
ORPHA:144 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Norrie Disease |
|
Failure to thrive, Cachexia, Delayed puberty |
ORPHA:649 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia |
ORPHA:228308 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Fanconi Anemia |
|
Abnormality of chromosome stability |
ORPHA:84 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... |
ORPHA:508 |
Menkes Disease |
|
Hypoglycemia |
ORPHA:565 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypoglycemia |
ORPHA:786 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Addison Disease |
|
Type I diabetes mellitus, Hypoglycemia |
ORPHA:85138 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Tyrosinemia, Type I |
|
Hypoglycemia |
OMIM:276700 |
Multiple Endocrine Neoplasia Type 1 |
|
Lethargy, Depression |
ORPHA:652 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Acute Liver Failure |
|
Hypoglycemia, Depression |
ORPHA:90062 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Neurooculorenal Syndrome |
|
Recurrent hypoglycemia, Highly arched eyebrow |
OMIM:620305 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Short stature, Weight loss |
OMIM:613673 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy |
ORPHA:466650 |
Immunodeficiency 31C |
|
Growth delay, Weight loss, Short stature, Delayed puberty |
OMIM:614162 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss |
ORPHA:85408 |
Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss |
ORPHA:370348 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia |
ORPHA:289548 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Mucolipidosis Type Ii |
|
Postnatal growth retardation, Short stature, Weight loss |
ORPHA:576 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Weight loss |
ORPHA:309031 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Intrauterine growth retardation, Failure to thrive, Weight loss |
ORPHA:99885 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:116 |
Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Eisenmenger Syndrome |
|
Lethargy, Aortopulmonary window |
ORPHA:97214 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Non-Acquired Panhypopituitarism |
|
Hypoglycemia |
ORPHA:90695 |
Holoprosencephaly 1 |
|
Hypoglycemia |
OMIM:236100 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Neonatal hypoglycemia |
ORPHA:90794 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Cystinosis, Nephropathic |
|
Short stature, Failure to thrive in infancy, Weight loss, Growth delay, Delayed puberty |
OMIM:219800 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Weight loss |
OMIM:615846 |
Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Brucellosis |
|
Small for gestational age, Failure to thrive, Miscarriage, Weight loss |
ORPHA:1304 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia |
OMIM:130650 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypoglycemia |
ORPHA:95494 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypoglycemia |
OMIM:201750 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Delayed puberty |
ORPHA:91347 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Sotos Syndrome |
|
Small cell lung carcinoma, Pulmonary bleb, Downslanted palpebral fissures, Neonatal hypoglycemia |
ORPHA:821 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Behçet Disease |
|
Weight loss |
ORPHA:117 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Delayed menarche, Weight loss |
ORPHA:740 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
African Trypanosomiasis |
|
Miscarriage, Weight loss |
ORPHA:3385 |
Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
Sarcoidosis |
|
Weight loss |
ORPHA:797 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |