Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ... |
OMIM:607250 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Failure to thrive, Decreased LDL cholesterol concentration, Steator... |
OMIM:246700 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Increased ... |
OMIM:613752 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... |
OMIM:300559 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in lower limbs, Fasting h... |
ORPHA:171706 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Chorea, Impaired distal vibration sen... |
OMIM:208920 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight |
ORPHA:314811 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea |
ORPHA:309108 |
3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Steatorrhea |
OMIM:618752 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesi... |
OMIM:616267 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Small for gestational age, Elevated circulating creatine kinase ... |
ORPHA:26793 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Hypoalbuminemia |
OMIM:614652 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia |
OMIM:240800 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:612714 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Macroglossia, Hypoalbuminemia, Failure to thrive |
ORPHA:79320 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... |
OMIM:603553 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Glycogen Storage Disease Iii |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myopathy, Dista... |
OMIM:232400 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency |
OMIM:609812 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Ataxia, Aplasia/Hypoplasia of the pancreas, Dysmetria, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:64753 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Jaundice, Central hypothyroidism, Abnormality of the liver, Difficulty walking, Hyp... |
ORPHA:1667 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u... |
OMIM:617872 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Chronic constipation, Abnormal repetitive manne... |
OMIM:619695 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... |
ORPHA:276580 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypohidrosis, Exocrine pancreatic insufficiency |
ORPHA:452 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Decreased muscle mass, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Small for gestational age, Diastasis recti, Decreased body weight, Neonatal hypogly... |
ORPHA:231140 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Neop... |
ORPHA:1333 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... |
OMIM:616050 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Cirrhosis... |
OMIM:269200 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Achalasia, Hypothyroidism, Hepatosplenomegaly |
OMIM:615952 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Failure to thrive, Lower limb muscle weakness, Hypoglycemia |
OMIM:617950 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Hy... |
ORPHA:42 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Myopathy, Failure to thrive, Ketotic hypoglycemia |
ORPHA:26792 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hypoglycemia, Left ventricular hypertrophy, Decreased plasma free carnitine, Fai... |
OMIM:619048 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Failure to thrive, Hypoproteinemia |
ORPHA:2315 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Ataxia, Pancreatic fibrosis, Dysmetria, Hepatic fibrosis, Steato... |
OMIM:616263 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... |
OMIM:618120 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency |
OMIM:260450 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperammonemi... |
ORPHA:2394 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Anorexia, Chronic diarrhea, Macronodular cirrhosis, Vomiting, ... |
OMIM:557000 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Hypoalb... |
ORPHA:367 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase... |
OMIM:615895 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Hypoglycemia, Dysmetria, Paresthesia |
ORPHA:48431 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Obesity, Gait ataxia |
OMIM:300148 |
Eosinophilic Gastroenteritis |
|
Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... |
ORPHA:276608 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Ataxia, Hypoglycemia |
OMIM:246900 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia |
ORPHA:289504 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... |
OMIM:617093 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasm... |
ORPHA:79237 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Athetosis, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Weight loss |
OMIM:209950 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypoglycemia, I... |
ORPHA:79644 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Decreased HDL cholesterol concentration, Failure to thrive, Ataxia,... |
ORPHA:14 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Diarrhea, Steatorrhea, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo... |
OMIM:619055 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi... |
OMIM:619386 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Failure to thrive, Hypoglycemia |
ORPHA:369 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, Hepatic fibrosis, Ci... |
OMIM:300972 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Bone Marrow Failure Syndrome 3 |
|
Pancreatic steatosis, Hyperactivity, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617052 |
Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia |
OMIM:603554 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Gastroesophageal reflux, Recurrent pancreatitis, St... |
OMIM:618268 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatic steatosis, Hepatomegaly, Ataxia, Decreased response to growth hormone... |
ORPHA:699 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
Leishmaniasis |
|
Hypoalbuminemia, Weight loss |
ORPHA:507 |
Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic diarrhea, Hypohidros... |
OMIM:619004 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67048 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Ataxia, Hyperprolinemia, Hyperalaninemia, Failure to thrive, Neonatal h... |
OMIM:619046 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
OMIM:614736 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Irritability, Cirrhosis, Exocrine pancreatic insufficiency |
OMIM:616539 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive |
OMIM:614702 |
Immunodeficiency 32B |
|
Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Shwachman-Diamond Syndrome |
|
Short attention span, Hepatomegaly, Decreased response to growth hormone stimulation test, Steato... |
ORPHA:811 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Gait ataxia |
OMIM:618158 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Flexion contracture, Atypical s... |
ORPHA:89842 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Hypoglycemia, Hyperglycinemia, Failure to thrive, Hypertaurinemia |
OMIM:245400 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ... |
OMIM:219700 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Somatic sensory dysfunction, Hypertriglyceridemia, Ataxia, Increased circulating fe... |
ORPHA:167 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Failure to thrive, Ataxia, Hypoglycemia |
ORPHA:95428 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Generalized amyotrophy |
OMIM:610006 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypoglycemia |
OMIM:618329 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Dysmetria, Steatorrhe... |
OMIM:212065 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Splenomegaly, Hypo... |
OMIM:219800 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:260400 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Myopathy, Recurrent hypoglyce... |
OMIM:212140 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hepatic steatosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas... |
ORPHA:93111 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Hypoalbuminemia |
OMIM:617021 |
Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... |
OMIM:610965 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Dysmetria, Athetosis, Generalized amyotrophy, Limb... |
OMIM:617710 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... |
ORPHA:97279 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia |
OMIM:620137 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... |
ORPHA:79240 |
Liver Disease, Severe Congenital |
|
Short attention span, Chronic gastritis, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholesta... |
OMIM:619991 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Athetosis, Hypoglycemia |
OMIM:618241 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Abnormality of the pancreas, Ataxia, Exocrine pancreatic insufficiency |
ORPHA:2750 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... |
ORPHA:263455 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, Abnormal adipose tissue morphology, Hypoalbuminemia, Hypoch... |
ORPHA:79324 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula... |
ORPHA:90041 |
Avian Influenza |
|
Rhabdomyolysis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated cir... |
ORPHA:454836 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Portal hypertension, Macronodular cirrhosis, Hepatic fibrosis, Hypothyroidism, ... |
OMIM:620005 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia |
OMIM:618958 |
Maple Syrup Urine Disease |
|
Ataxia, Hypoglycemia, Elevated circulating branched chain amino acid concentration, Elevated circ... |
OMIM:248600 |
Cystic Fibrosis |
|
Meconium ileus, Depression, Abnormality of the liver, Gastroesophageal reflux, Cirrhosis, Steator... |
ORPHA:586 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase... |
ORPHA:264580 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... |
ORPHA:73272 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... |
ORPHA:199296 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... |
ORPHA:2126 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Ragged-red muscle fibers, Hypocalcemia, Failure to thrive, Neonatal hypoglycemia |
OMIM:606407 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperammonemia,... |
OMIM:212138 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Fai... |
OMIM:210210 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms, Exocrine pancreatic insufficiency |
ORPHA:508498 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Lower limb hypertonia, Hypoalbuminemia, Left ventricular hypertrophy, Failure to thrive |
OMIM:619487 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Decreased circulating cortisol level, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminem... |
ORPHA:37042 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Adipose tissue loss, Hyperinsulinemia, Fasting hypoglycemia, Severe fail... |
OMIM:246200 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:618500 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia |
OMIM:600649 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuria, Hypophospha... |
OMIM:616026 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contractu... |
OMIM:251300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp... |
OMIM:255120 |
Temple Syndrome |
|
Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity |
ORPHA:254516 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Ataxia, Elevated hemoglobin A1c, Hypoglycemia |
OMIM:616113 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failu... |
ORPHA:79396 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia |
ORPHA:158048 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating cre... |
ORPHA:36234 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Gait ataxia |
OMIM:616355 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Elevated circulating acylcarnit... |
ORPHA:99901 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Failure to thrive, Decreased circulating cortisol level |
OMIM:202200 |
Mucopolysaccharidosis-Plus Syndrome |
|
Macroglossia, Flexion contracture, Hypoalbuminemia |
OMIM:617303 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hyperammonemia, Hypoglycemia |
OMIM:618253 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level |
OMIM:607398 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Al Amyloidosis |
|
Macroglossia, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Weight loss |
ORPHA:85443 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Pare... |
ORPHA:29073 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive |
OMIM:251000 |
Glutaric Acidemia I |
|
Choreoathetosis, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia |
OMIM:231670 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Congenital hypothyroidism, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbla... |
ORPHA:2255 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Hypoglycemia, Decreased body... |
ORPHA:391408 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoesthesia, Hypoalbuminemia, H... |
OMIM:277900 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ducts, Cirrhosis, Prol... |
OMIM:118450 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Hypoglycemia, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypoins... |
ORPHA:453533 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ataxia, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
ORPHA:480864 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancreatic insufficiency |
OMIM:137920 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:616878 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Hypoglycemia, Elevated circulating creatine kinase con... |
ORPHA:26791 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
Pierson Syndrome |
|
Skeletal muscle atrophy, Hypoproteinemia |
OMIM:609049 |
Orthostatic Hypotension 1 |
|
Weakness of facial musculature, Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Hyperactivity, Gastroesophageal reflux, Tics, Low frustration tolera... |
ORPHA:508488 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Smith-Kingsmore Syndrome |
|
Umbilical hernia, Hypoglycemia, Diastasis recti, Large for gestational age |
OMIM:616638 |
Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia, Small for gestational age, Truncal ataxia, Gait ataxia |
OMIM:616817 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:608836 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Hyperammonemia, Fasting hypogly... |
ORPHA:159 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Umbilical hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly |
OMIM:235510 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Nemaline bodies |
OMIM:620275 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp... |
OMIM:227810 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjug... |
OMIM:613658 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality... |
OMIM:222470 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Hypogly... |
ORPHA:3008 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Ataxia, Hypoglycemia, Failure to thrive, Abnormal mi... |
ORPHA:2609 |
Glycogen Storage Disease Ia |
|
Decreased muscle mass, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglyc... |
OMIM:232200 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Hypothyroidism, Exocrin... |
ORPHA:116 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We... |
ORPHA:199299 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Myopathy, Muscu... |
OMIM:307030 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase co... |
OMIM:201475 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Gait ataxia |
OMIM:254900 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Classic Galactosemia |
|
Ataxia, Hypoglycemia |
ORPHA:79239 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Flexion contracture, Hypoalbuminemia, Hernia |
ORPHA:505248 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Fasting hypoglycemia |
OMIM:201400 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia |
OMIM:615962 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Hypoglycemia, Chorea, Choreoathetos... |
ORPHA:506 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Small for gestational age, Hypoglycemia |
ORPHA:397590 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce... |
ORPHA:361 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Rhabdomyolysis, Skeletal myopathy, Hypocalcemia, Left ventricular h... |
ORPHA:746 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, Flexion ... |
ORPHA:17 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating glutaric acid concentration, Ataxia, Generalized amyotrophy, Diaphragmatic e... |
ORPHA:66634 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Insulin resistance, Hyperinsulinemi... |
ORPHA:508 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We... |
ORPHA:95409 |
Primary Sclerosing Cholangitis |
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Type I diabetes mellitus, Hypoalbuminemia, Generalized amyotrophy, Weight loss |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type Ig |
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Failure to thrive, Small for gestational age, Hypocalcemia, Hypoglycemia |
OMIM:607143 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Pancreatic And Cerebellar Agenesis |
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Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... |
OMIM:609069 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
ORPHA:90790 |
Timothy Syndrome |
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Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Juvenile Polyposis Syndrome |
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Multiple lipomas, Failure to thrive, Hypoproteinemia, Rectocele |
ORPHA:2929 |
Silver-Russell Syndrome 2 |
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Neonatal hypoglycemia |
OMIM:618905 |
Congenital Disorder Of Glycosylation, Type Iie |
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Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase co... |
OMIM:608779 |
Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Skeletal muscle atrophy, Pain insensitivity, Ataxia, Hypoglycemia, Corneal scarring, Distal senso... |
OMIM:256810 |
Rabson-Mendenhall Syndrome |
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Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... |
ORPHA:769 |
Marburg Hemorrhagic Fever |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Dysesthesia, E... |
ORPHA:99826 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Hypoglycemia |
OMIM:201910 |
Monocarboxylate Transporter 1 Deficiency |
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Ketotic hypoglycemia |
OMIM:616095 |
Silver-Russell Syndrome 1 |
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Small for gestational age, Fasting hypoglycemia |
OMIM:180860 |
Silver-Russell Syndrome |
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Decreased muscle mass, Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recur... |
ORPHA:813 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... |
ORPHA:90791 |
Mirage Syndrome |
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Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased body weight |
OMIM:617053 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Congenital muscular torticollis, Ataxia, Contracture of the proximal interphalangeal joint of the... |
ORPHA:457279 |
Basilicata-Akhtar Syndrome |
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Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Addison Disease |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We... |
ORPHA:85138 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Joint contracture, Failure to thrive, Hypoglycemia |
OMIM:618005 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Skeletal muscle atrophy, Hypoglycemia, Cachexia, Myopathy, Lipoma |
ORPHA:109 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
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Macroglossia, Umbilical hernia, Small for gestational age, Hypoglycemia |
OMIM:614501 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypertyrosinemia, Ataxia, Hypoglycemia, Rhabdomyolysis, Ragged-red muscle fibers, Recurrent hypog... |
OMIM:124000 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
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Fasting hypoglycemia |
ORPHA:436174 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Diastasis recti, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Skeletal muscle atrophy, Ataxia, Hypoglycemia, Ragged-red muscle fibers, Increased intramyocellul... |
OMIM:252010 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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Torticollis, Pain insensitivity, Hypoglycemia, Choreoathetosis, Athetosis |
OMIM:620224 |
Pituitary Stalk Interruption Syndrome |
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Failure to thrive, Hypoglycemia |
ORPHA:95496 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria |
OMIM:231680 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Ataxia, Dysmetria, Athetosis, Generalized amyotrophy, Neonatal hypoglycemia, Limb hypertonia |
ORPHA:572798 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Portal hypertension, Intrahepatic cholestasis, Splenomegaly, Hepatic fibrosis, Prim... |
OMIM:243800 |
Multiple Endocrine Neoplasia, Type I |
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Increased circulating cortisol level, Hypoglycemia, Hypercalcemia, Subcutaneous lipoma |
OMIM:131100 |
Tenorio Syndrome |
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Macroglossia, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Congenital Disorder Of Glycosylation, Type It |
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Rhabdomyolysis, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:614921 |
Shashi-Pena Syndrome |
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Hypoglycemia, Limb hypertonia |
OMIM:617190 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Nonketotic hypoglycemia, Ataxia, Hyperammonemia, Weight loss, Recurrent hypoglycemia, Hyperuricemia |
ORPHA:20 |
Shigellosis |
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Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Rhabdomyolysis, Abnormal blood ion conc... |
ORPHA:810 |
Post-Traumatic Pituitary Deficiency |
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Hypoglycemia |
ORPHA:95619 |
Cholera |
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Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Hyperammonemia, Hyperhomocystine... |
ORPHA:79282 |
Smith-Lemli-Opitz Syndrome |
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Failure to thrive, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypo... |
OMIM:270400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia |
OMIM:201450 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Pain insensitivity, Flexion contracture, Hypoglycemia, Distal sensory impairment |
OMIM:616007 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi... |
ORPHA:3337 |
3-Methylglutaconic Aciduria, Type Viib |
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Choreoathetosis, Flexion contracture, Ataxia, Neonatal hypoglycemia |
OMIM:616271 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric... |
ORPHA:79259 |
Glycogen Storage Disease Ib |
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Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232220 |
Tyrosinemia, Type I |
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Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypermethio... |
OMIM:276700 |
Holoprosencephaly |
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Omphalocele, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congeni... |
ORPHA:2162 |
Pituitary Hormone Deficiency, Combined, 2 |
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Neonatal hypoglycemia, Hypoglycemic seizures |
OMIM:262600 |
Pituitary Apoplexy |
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Hyponatremia, Increased circulating cortisol level, Hypoglycemia |
ORPHA:95613 |
Sheehan Syndrome |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity |
ORPHA:91355 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Neonatal hypoglycemia, Congenital foot contractures, Limb hypertonia |
ORPHA:565624 |
Immunodeficiency, Common Variable, 10 |
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Hypoglycemia |
OMIM:615577 |
Perlman Syndrome |
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Hypoplasia of the abdominal wall musculature, Hypoglycemia, Congenital diaphragmatic hernia, Larg... |
OMIM:267000 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
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Hypoglycemia |
OMIM:611126 |
Menkes Disease |
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Inguinal hernia, Hypoglycemia, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Atyp... |
ORPHA:565 |
Immunodeficiency 82 With Systemic Inflammation |
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Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:619381 |
Fructose Intolerance, Hereditary |
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Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa... |
OMIM:229600 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Oculodentodigital Dysplasia |
|
Ataxia, Abnormal dental enamel morphology, Camptodactyly of finger, Hypoglycemia, Umbilical hernia |
ORPHA:2710 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Athetosis, Chorea, Ataxia, Fasting hypoglycemia |
ORPHA:25 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Hypoglycemia, Overweight, Macroglossia, Umbilical hernia, Abnormal circulating thyroglobulin level |
ORPHA:226307 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia |
OMIM:229700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Inguinal hernia, Ataxia, Small for gestational age, Hypoglycemia, Dysmetria, Hyperammonemia, Trun... |
OMIM:220111 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Neonatal hypoglycemia |
ORPHA:445038 |
X-Linked Dominant Chondrodysplasia Punctata |
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Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
Sotos Syndrome |
|
Glucose intolerance, Increased body weight, Neonatal hypoglycemia |
OMIM:117550 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:168558 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia, Failure... |
ORPHA:293978 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:289548 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232240 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Decreased muscle mass, Small for gestational age, Insulin resistance, Fasting hypoglycemia, Failu... |
ORPHA:96182 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele... |
OMIM:619534 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia |
ORPHA:469 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia, Increased circulating cortisol level |
ORPHA:786 |
Leptospirosis |
|
Hyperproteinemia, Rhabdomyolysis |
ORPHA:509 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Hypoalbuminemia, Myocardial calcification |
ORPHA:75565 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia, Decreased body weight |
OMIM:300867 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Hypoglycemia, Obesity |
OMIM:301066 |
Pmm2-Cdg |
|
Multiple joint contractures, Lipodystrophy, Ataxia, Abnormal subcutaneous fat tissue distribution... |
ORPHA:79318 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Diarrhea, Insulinoma, Ext... |
ORPHA:276152 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic her... |
ORPHA:373 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia |
OMIM:233600 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Facial hypotonia, Large for gestational age, Gait ataxia, Slender build, Neonatal hypoglycemia |
ORPHA:457359 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia |
ORPHA:137675 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype... |
OMIM:201750 |
Costello Syndrome |
|
Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Macroglossia, Failure to thrive |
OMIM:218040 |
Acute Liver Failure |
|
Pain insensitivity, Ataxia, Hyperammonemia, Hypoglycemia |
ORPHA:90062 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai... |
ORPHA:90794 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Decreased circulating cortisol level |
OMIM:620305 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy, Neonatal hypoglycemia |
OMIM:261740 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Macroglossia, Diastasis recti, Neonatal hypoglycemia |
OMIM:130650 |
3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
Non-Acquired Panhypopituitarism |
|
Hypoglycemia |
ORPHA:90695 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Bilateral camptodacty... |
ORPHA:821 |
Holoprosencephaly 1 |
|
Hypoglycemia |
OMIM:236100 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypoglycemia |
ORPHA:95494 |