Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Abnormal C-pept... |
ORPHA:552 |
Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic steatosis |
OMIM:261650 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus |
OMIM:619278 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, G... |
ORPHA:2089 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Familial Renal Glucosuria |
|
Renal tubular dysfunction, Nephropathy, Recurrent urinary tract infections, Glycosuria |
ORPHA:69076 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hepatomegaly, Hepatic failure, Hypoglycemia, Renal steatosis, Elevated circulating ala... |
OMIM:261680 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia |
OMIM:618857 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy... |
ORPHA:35878 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Renal Glucosuria |
|
Polyuria, Glycosuria, Enuresis nocturna |
OMIM:233100 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
ORPHA:2088 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction |
OMIM:606528 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Loss... |
OMIM:604367 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... |
ORPHA:263455 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... |
ORPHA:99886 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Acute hyperammonemi... |
OMIM:210200 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Nephrogenic diabetes insipidus, Cholestatic liver disease, Giant cell hepatiti... |
OMIM:613404 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic steat... |
ORPHA:79084 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:610717 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... |
OMIM:613388 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrop... |
ORPHA:435660 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Myopathy |
ORPHA:366 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Hypoglycemia, Elevated hepatic transam... |
OMIM:616026 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant ... |
OMIM:613877 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... |
OMIM:619355 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Loss of gluteal subcutan... |
ORPHA:435651 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Glutaric Acidemia I |
|
Failure to thrive, Ketonuria, Hepatomegaly, Elevated circulating glutaric acid concentration, Hyp... |
OMIM:231670 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Type 1 Diabetes Mellitus |
|
Polyuria, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... |
OMIM:134600 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Ketotic hypoglycemia, Increa... |
ORPHA:26792 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Neonatal death, Elevated circulating gl... |
OMIM:231680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E... |
OMIM:619048 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, ... |
OMIM:615980 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... |
ORPHA:79085 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia, Nephrolithiasis, Aminoaciduria, Aspartic aciduria |
OMIM:222730 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Ketonuria, Acute hyperammonemia, Hyperglycinuria, Hyperammonemia, Hypoglycemia... |
OMIM:210210 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalo... |
OMIM:251120 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Long pen... |
OMIM:262190 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... |
OMIM:615238 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Microscopic hematuria, Proteinuria, Glomerulopathy, Hepatic stea... |
ORPHA:79087 |
Glutaric Acidemia Type 3 |
|
Failure to thrive, Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of ci... |
ORPHA:35706 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Autism, Susceptibility To, 3 |
|
Increased serum serotonin, Ketonuria |
OMIM:608049 |
Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Decreased ci... |
ORPHA:171706 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small ... |
ORPHA:79237 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... |
ORPHA:436271 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... |
OMIM:617872 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic transaminase, Mildly elevated crea... |
OMIM:618400 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Elevated hepatic transaminase, Hypertriglyceridemia, Hy... |
OMIM:306000 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, S... |
ORPHA:528 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... |
ORPHA:181393 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:616192 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentr... |
OMIM:619386 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... |
OMIM:220110 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Ketonuria |
OMIM:615751 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Failure to thrive, Ketonuria, Lower-limb joint contracture, Abnormalit... |
ORPHA:99885 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Hyperglycinem... |
OMIM:251110 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Reduced subcutaneous adipose tissue, Failure to thrive, Hypophosphatem... |
OMIM:227810 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Ketonuria, Elevated urinary 3-hydroxybutyric acid |
OMIM:245050 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... |
OMIM:603471 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... |
ORPHA:79086 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance |
OMIM:617885 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, A... |
ORPHA:369 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia |
ORPHA:134 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Transient aminoaciduria, Hyperbiliru... |
OMIM:229600 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Insulin resistance, Lipoatrophy, Skeletal m... |
ORPHA:2348 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompaction, Neonatal d... |
OMIM:619167 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... |
OMIM:230350 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Portal fibros... |
ORPHA:370 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Hyperglycinem... |
OMIM:251100 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Ma... |
ORPHA:79083 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... |
ORPHA:3337 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... |
ORPHA:228305 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... |
OMIM:246200 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Renal Tubular Acidosis, Proximal |
|
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis, Short stature |
OMIM:179830 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria, Hepatomegaly |
ORPHA:67046 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoketotic hypoglycemia, Myoglobinuria, Dicarboxylic aciduria, Hypogl... |
OMIM:231530 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Muscular dystrophy, Increased urinary glycerol,... |
OMIM:307030 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Premature thelarche,... |
OMIM:616878 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Insulin-resistant diabetes... |
ORPHA:90301 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammon... |
ORPHA:20 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... |
ORPHA:75234 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypogonadism, Hy... |
OMIM:615381 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... |
OMIM:615954 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carn... |
OMIM:201450 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, EMG: myopathic abnor... |
ORPHA:480864 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... |
OMIM:606069 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Lower limb musc... |
OMIM:617950 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased bo... |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Increased bod... |
ORPHA:264580 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... |
OMIM:255120 |
Richards-Rundle Syndrome |
|
Hypergonadotropic hypogonadism, Ketonuria, Distal amyotrophy |
ORPHA:1399 |
Dibasic Amino Aciduria I |
|
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia, Hepatomegaly |
OMIM:619053 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Organic aciduria |
ORPHA:35 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus, Hypogonadism |
OMIM:277700 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketot... |
ORPHA:26793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,... |
OMIM:219800 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... |
ORPHA:465508 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... |
OMIM:201475 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Elevated hemoglobin A1c, Glucose intolerance, Glycosuria |
OMIM:616539 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria, Failure to thrive |
OMIM:612718 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hepatic failure, Aminoaciduria, Splenomegaly |
ORPHA:664 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... |
OMIM:614300 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Duplicated collecting... |
OMIM:617093 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... |
ORPHA:417 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... |
OMIM:232400 |
Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
Juvenile Nephropathic Cystinosis |
|
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... |
ORPHA:411634 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... |
OMIM:137920 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Ketonuria, Aminoaciduria, Large for gestational age, Umbilical hernia |
OMIM:614520 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
ORPHA:42062 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystinemia |
OMIM:613646 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Loss of subcutane... |
ORPHA:280365 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... |
ORPHA:941 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Increased serum lactate, Growth delay, Lactic acidosis |
OMIM:616111 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Organic aciduria, Failu... |
ORPHA:6 |
Galactosemia I |
|
Decreased liver function, Increased level of galactitol in urine, Failure to thrive, Hepatomegaly... |
OMIM:230400 |
Richards-Rundle Syndrome |
|
Ketonuria, Skeletal muscle atrophy, Absence of secondary sex characteristics, Hypogonadism |
OMIM:245100 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Skeletal musc... |
ORPHA:90970 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Muscular dystrophy, Elevated circulating creatine kinase... |
OMIM:616516 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Retinitis Pigmentosa 59 |
|
Failure to thrive, Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency |
OMIM:613861 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Abnormal circulating creatine kinase conc... |
ORPHA:369840 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... |
ORPHA:681 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice |
ORPHA:79238 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... |
ORPHA:412 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy |
OMIM:618234 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal mu... |
OMIM:613327 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... |
ORPHA:79319 |
Saccharopinuria |
|
Histidinuria, Citrullinuria, Hyperlysinuria, Saccharopinuria |
OMIM:268700 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Organic aciduria |
OMIM:614741 |
Stimmler Syndrome |
|
Type II diabetes mellitus, Aminoaciduria |
ORPHA:3199 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe... |
ORPHA:209919 |
Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum... |
OMIM:500009 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239510 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Ketonuria, Hyperammonemia, Hypomethioninemia, Methylmalonic aciduria, Elevated... |
ORPHA:79282 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... |
OMIM:618549 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Aminoaciduria, Increased serum pyruvate, Cholestasi... |
OMIM:603358 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... |
OMIM:603552 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hype... |
OMIM:608594 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segment... |
OMIM:617575 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Limb hypertonia, Neonatal death, Hyperalaninemia, Hepatic steatosis |
OMIM:615918 |
Perlman Syndrome |
|
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal herni... |
ORPHA:2849 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... |
ORPHA:699 |
Retinitis Pigmentosa |
|
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Increased muscle glycogen content, Hepatomegaly |
OMIM:261750 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone s... |
ORPHA:189427 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypothyroidism, Elevated hepatic transaminase, Hypertriglyceridemia, Hypoalbu... |
OMIM:619013 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... |
OMIM:619290 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Dicarboxylic aciduria, Decreased plasma carnitine, Elevated circulating acy... |
ORPHA:79159 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glyco... |
ORPHA:411629 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Nephrolithiasis, Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Elevated hemoglobin A... |
OMIM:269700 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... |
ORPHA:99901 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pan... |
ORPHA:444490 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria, Elevated hepatic transaminase, Lipodystrophy, Pri... |
ORPHA:300536 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Increased blood urea nitrogen, Anemia, Hemoglobinuria, Leukopenia, Glycos... |
ORPHA:447 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Glycosuria, Stage 5 chronic kidney disease |
OMIM:268315 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:212138 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Hypospadias, Ca... |
OMIM:175700 |
Alstrom Syndrome |
|
Hyperinsulinemia, Chronic active hepatitis, Hepatomegaly, Nephritis, Decreased response to growth... |
OMIM:203800 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Diastasis recti, Cholestatic liver disease, Flexion contracture, Ingu... |
ORPHA:440713 |
Myasthenia Gravis |
|
Hyperthyroidism, Glycosuria, Hemolytic anemia, Primary adrenal insufficiency, Abnormality of the ... |
ORPHA:589 |
Short Syndrome |
|
Glucose intolerance, Lipoatrophy, Inguinal hernia, Lipodystrophy, Insulin-resistant diabetes mell... |
OMIM:269880 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Methylmalonic aciduria, Hypertaurinemia, Elevated circulating aspartate aminot... |
OMIM:245400 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic fa... |
ORPHA:79303 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone s... |
ORPHA:189439 |
Porphyria Cutanea Tarda |
|
Corneal scarring, Increased circulating ferritin concentration, Porphyrinuria, Viral hepatitis, P... |
ORPHA:101330 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Glob... |
ORPHA:47159 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... |
ORPHA:1414 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea |
OMIM:615767 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Alaninuria, Diabetes mellitus |
OMIM:202900 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Tiglic Acidemia |
|
Acidosis |
OMIM:275190 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Fatty replacement of skeletal muscle, Elevated circulating creatine kinase conc... |
OMIM:255100 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Hypogonadism, Skeletal mus... |
ORPHA:79474 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98863 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:228308 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98853 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Hypoglycemia, Organic aciduria, Decrease... |
OMIM:246450 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Tendon xanthomatosis, Hypercholes... |
OMIM:603813 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Methylmalonic aciduria, Hypoglycemia, Elevated hepatic transaminase, Dicarboxy... |
ORPHA:289504 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai... |
OMIM:613070 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr... |
ORPHA:890 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle w... |
ORPHA:98908 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... |
OMIM:614582 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... |
OMIM:256810 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Lower limb muscle weakness, Hyperglycemia |
OMIM:619737 |
Insulin-Resistance Syndrome Type A |
|
Type II diabetes mellitus, Delayed puberty |
ORPHA:2297 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminas... |
ORPHA:156 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Acidosis, Severe short stature |
OMIM:204730 |
Scorpion Envenomation |
|
Ketonuria, Hypokalemia, Increased circulating NT-proBNP concentration, Elevated circulating aspar... |
ORPHA:466677 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hepatomegaly, Hepatic failu... |
ORPHA:2394 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Renal insufficiency, Hyperglycemia |
OMIM:615986 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... |
OMIM:618805 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Immunodeficiency 70 |
|
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease |
OMIM:618969 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... |
OMIM:619281 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Leukemia, Type II diabetes mellitus |
OMIM:210900 |
Leprechaunism |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... |
ORPHA:508 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis |
OMIM:604416 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:233805 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... |
OMIM:600995 |
Hydroxykynureninuria |
|
Jaundice, Aminoaciduria |
OMIM:236800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Adrenomyodystrophy |
|
Failure to thrive, Megacystis, Abnormality of the urinary system, Primary adrenal insufficiency, ... |
ORPHA:977 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... |
OMIM:615947 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... |
OMIM:608836 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... |
OMIM:214900 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly |
OMIM:613101 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Decreased plasma carnitine, Ragged... |
ORPHA:254864 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Elevated hepatic transaminase |
ORPHA:75563 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Proximal muscle ... |
ORPHA:905 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hepatomegaly, Increased urinary glycerol, Neonatal hypoglycemia, Hyp... |
ORPHA:348 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Hypertriglyceri... |
OMIM:619127 |
Riboflavin Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria |
OMIM:615026 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... |
ORPHA:470 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Flexion contracture, Camptodactyly, Renal hypopla... |
OMIM:604273 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Myositis, Elevated hepatic tr... |
OMIM:617591 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis, Myopathy |
OMIM:300270 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Ragged-red muscle... |
OMIM:614924 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... |
OMIM:618108 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Neonatal hyperbilirubinemia, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Inc... |
ORPHA:3008 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Proximal renal tubular acidosis, Increased serum pyruvate, Hypoglycemia, Hyperalani... |
OMIM:266150 |
Necrotizing Enterocolitis |
|
Small for gestational age, Peritonitis, Hyponatremia, Abnormal glucose homeostasis, Ascites, Hype... |
ORPHA:391673 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Increased serum lactate, Ketoacidosis, Episodic ketoacidosis, Lactic acidosis |
OMIM:615453 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Stage 5 chronic k... |
OMIM:619487 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria,... |
OMIM:600001 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hypo... |
ORPHA:71 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase |
OMIM:246900 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... |
OMIM:608809 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Steatorrhea, Weight loss, Jaundice, Abnormal urine potassium concentration, Elev... |
ORPHA:275761 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Hepatomegaly, Splenome... |
OMIM:618892 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis |
OMIM:618394 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased circulating androgen c... |
ORPHA:769 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Short stature, Metabolic acidosis, Proximal renal tubular acidosis, Decreased serum bicarbonate c... |
OMIM:604278 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contracture, Art... |
OMIM:214150 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, EMG: myopathic abnormalities, Rimmed vacuoles, Increased v... |
ORPHA:52430 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... |
OMIM:615486 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:157 |
Hawkinsinuria |
|
Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, Failure to thrive, ... |
ORPHA:2118 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, 3-Methy... |
ORPHA:26791 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated cir... |
OMIM:614727 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hypergalactosemia, Cholestasis |
ORPHA:570422 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... |
ORPHA:79259 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... |
ORPHA:213 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Weakness of facial musculature, Hand muscle atrophy, Foot dorsiflexor weakness... |
OMIM:618811 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, EMG: myopathic abnormalities, Abnormal circulating creatine... |
ORPHA:98907 |
Visceral Steatosis, Congenital |
|
Hypocalcemia, Jaundice, Neonatal death, Hypoglycemia, Renal steatosis, Myocardial steatosis, Hepa... |
OMIM:228100 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... |
OMIM:614921 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Abnormal muscle fiber morphology, Hyp... |
ORPHA:79102 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Weight loss |
ORPHA:100024 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... |
OMIM:611126 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... |
OMIM:267700 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Hypoglycemi... |
ORPHA:230 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Jaundice, Aminoaciduria, Myopathy |
ORPHA:33574 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated hepatic transaminase, Elevated circulating thyro... |
ORPHA:94086 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic... |
OMIM:603278 |
Cog7-Cdg |
|
Failure to thrive, Hepatomegaly, Small for gestational age, Abnormality of the kidney, Hepatosple... |
ORPHA:79333 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... |
ORPHA:79301 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Lacticaciduria, Hyperala... |
OMIM:619003 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... |
ORPHA:2924 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Aminoaciduria, EMG: myopathic abnormalities, Elevated circulating creatine kinas... |
OMIM:609560 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Methioninuria, Pancreatitis, Inguinal hernia, Homocystinuria, Hyperhomocystine... |
OMIM:236200 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia |
ORPHA:90065 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyperkalemia, Renal sa... |
OMIM:614736 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... |
ORPHA:159 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans... |
ORPHA:79230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Cho... |
OMIM:124000 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Abnormality of the urinary system, Abnormal renal morphology, H... |
OMIM:182290 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti... |
ORPHA:411696 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... |
ORPHA:3163 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria |
ORPHA:2278 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the extraocular muscles, Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotrop... |
ORPHA:298 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... |
OMIM:617713 |
Hereditary Coproporphyria |
|
Dark urine, Proximal muscle weakness in lower limbs, Increased urinary porphobilinogen, Hepatocel... |
ORPHA:79273 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... |
OMIM:616278 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Nephrogenic diabetes insipidus, Cholestatic liver disease, Giant cell hepatiti... |
OMIM:208085 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... |
OMIM:616860 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea |
OMIM:614602 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypoplasia of penis, Diaphragmatic eventration, Elevated circul... |
ORPHA:66634 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
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Lacticaciduria, Hyperprolinemia, Hyperalaninemia |
ORPHA:79246 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Hypoglycemia, Hypogonadism, Insulin resistance |
ORPHA:73272 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... |
OMIM:616263 |
3-Methylglutaconic Aciduria, Type V |
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Glutaric aciduria, Hypospadias, Microvesicular hepatic steatosis, 3-Methylglutaric aciduria |
OMIM:610198 |
Hyperparathyroidism, Neonatal Severe |
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Failure to thrive, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Elevated circulat... |
OMIM:239200 |
Dubin-Johnson Syndrome |
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Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, J... |
ORPHA:234 |
Infantile Liver Failure Syndrome 2 |
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Hypoglycemia, Elevated hepatic transaminase, Jaundice, Acute hepatic failure |
OMIM:616483 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Failure to thrive, Flexion contracture, Facial palsy, Ethylmalonic aciduria, Myopathy |
OMIM:201470 |
Bile Acid Synthesis Defect, Congenital, 1 |
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