Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance |
OMIM:125853 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance |
ORPHA:140941 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:79085 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insul... |
ORPHA:435660 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insul... |
ORPHA:435651 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche, Insulin resistance |
OMIM:614662 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Hepatic fibrosis, Loss of subcutaneous adipose tissue in limbs, Insu... |
ORPHA:280356 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tiss... |
OMIM:612526 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Type II diabetes mellitus, Az... |
OMIM:615703 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance |
ORPHA:2398 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus |
OMIM:601410 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Oligomenorrhea, Maternal diabetes, Loss of subcutaneous ... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... |
ORPHA:71526 |
Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus |
OMIM:613877 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Hepatomegaly, Decreased HDL cholesterol concentration, Dysmenorrhea, Increa... |
ORPHA:280365 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi... |
OMIM:610717 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Insulin resistance, Fail... |
ORPHA:528 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Insulin resistance |
OMIM:617885 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Primary amenorrhea, Delayed ... |
OMIM:616033 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... |
OMIM:617872 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyce... |
ORPHA:436182 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Intrauterine growth retardation, Ascites, Failure... |
OMIM:617156 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Pparg-Related Familial Partial Lipodystrophy |
|
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Loss of subc... |
ORPHA:79083 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Hypertriglyceri... |
OMIM:615381 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... |
OMIM:614480 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Intrauterine growth retardation, Fai... |
OMIM:619048 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Loss of subcutaneous adipose tissue in limbs, I... |
ORPHA:2348 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he... |
OMIM:306000 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Rft1-Cdg |
|
Failure to thrive, Hepatomegaly, Arthrogryposis multiplex congenita, Short stature |
ORPHA:244310 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Mody |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... |
OMIM:602579 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age |
OMIM:618858 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Ketotic hypoglycemia, Elevated circulating ac... |
ORPHA:26792 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
Donohue Syndrome |
|
Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Hyperglycemia, Adipose t... |
OMIM:246200 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Menometrorrhagia, P... |
ORPHA:90970 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... |
OMIM:617093 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ... |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:619386 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... |
ORPHA:79319 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant dia... |
ORPHA:79086 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibros... |
ORPHA:370 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Failure to ... |
OMIM:613327 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Short stature, Splenomegaly, Hepatic fibrosi... |
ORPHA:264580 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Ascites, Growth delay, Failure to thrive, De... |
OMIM:251880 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hy... |
ORPHA:71212 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Keloids, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogo... |
ORPHA:3085 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... |
OMIM:269700 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic ... |
ORPHA:369 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... |
OMIM:608594 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Growth delay, Hyperlipidemia, Insulin resistance, Eunuchoid habitus, H... |
ORPHA:91 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... |
ORPHA:90301 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Small for ... |
ORPHA:73272 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... |
OMIM:203800 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia |
ORPHA:2849 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia |
ORPHA:791 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, H... |
ORPHA:189439 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:255120 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... |
ORPHA:42 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Male infertility, Inguinal hernia |
OMIM:261550 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Failure to thrive |
OMIM:613861 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... |
OMIM:278000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Growth delay, Elevated circulating creatine kinase concentration, Failure to thrive... |
OMIM:615895 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Elevated transferrin ... |
OMIM:613313 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive |
OMIM:618234 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content |
OMIM:261750 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... |
OMIM:614300 |
Ddost-Cdg |
|
Short stature, Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Eleva... |
ORPHA:300536 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Short stature, Elevated hepatic tra... |
OMIM:256810 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, A... |
ORPHA:417 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... |
OMIM:618805 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogo... |
OMIM:602390 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... |
OMIM:301045 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus |
OMIM:260370 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... |
ORPHA:369840 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Increased serum iron, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular c... |
OMIM:235200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypopituitarism, Hypo... |
OMIM:619013 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... |
ORPHA:247585 |
Immunodeficiency 48 |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Abnormality of the menstrual cycle, Hepatitis, Weight loss, Acut... |
ORPHA:905 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating... |
OMIM:232400 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... |
OMIM:613027 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Growth delay, Azoospermia, Splenomegaly, Hypogonadism, Increased circulating ferrit... |
OMIM:615234 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Leprechaunism |
|
Severe intrauterine growth retardation, Hepatomegaly, Central hypothyroidism, Fasting hypoglycemi... |
ORPHA:508 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circulating cre... |
ORPHA:228305 |
Cog7-Cdg |
|
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... |
ORPHA:79333 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Postnatal growth retardation, Short stature |
OMIM:619489 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Growth delay, Short stature, Elevated circulating creatine kinase concentration, Fa... |
OMIM:614727 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... |
OMIM:261680 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Splenomegaly, Increased circulating ferritin concentration, Diabetes mellitus... |
ORPHA:465508 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Intrauterine growth retardation, Severe... |
ORPHA:769 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Scarring, Elevated hepatic iron concentration, Portal inflammation, Chronic... |
ORPHA:101330 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Short stature, Increase... |
OMIM:614921 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Cirrhosis, Hepatic ste... |
ORPHA:139491 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Primary amenorrhea, Decreased serum leptin |
OMIM:614962 |
Classic Galactosemia |
|
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Hypoglycemia, Ascites, Decreased serum insuli... |
ORPHA:79239 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Galactosemia |
|
Secondary amenorrhea, Hepatomegaly, Hypergalactosemia, Oligomenorrhea, Decreased serum insulin-li... |
ORPHA:352 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Lack of facial subcutaneous fat, Small for gestational age, Short st... |
ORPHA:2959 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance |
ORPHA:439167 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Jaundice |
OMIM:230350 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... |
OMIM:603471 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Failure to thrive, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine... |
OMIM:614582 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Monosomy 13Q34 |
|
Growth delay, Insulin resistance, Metrorrhagia, Hepatic steatosis, Infantile hypercalcemia, Obesity |
ORPHA:96168 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly, Intrauterine growth retardation |
ORPHA:1980 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Intrauterine growth retardation, Splenomegaly, Hypogonadism, Flexion contracture |
OMIM:608540 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellula... |
ORPHA:79240 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... |
OMIM:615438 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Jaundice, Hepatic steatosis, Hepatospl... |
ORPHA:444490 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Jaundice |
ORPHA:79238 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Gracile Syndrome |
|
Decreased transferrin saturation, Intrauterine growth retardation, Elevated hepatic iron concentr... |
ORPHA:53693 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... |
OMIM:618549 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... |
OMIM:201450 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Cachexia, Insulin resistance, Erectile dysfunction, Splenomegaly, Hyp... |
ORPHA:3452 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failu... |
OMIM:618641 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... |
OMIM:607616 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Growth delay, Hepatocellular carcinoma, Increased hepatic gly... |
ORPHA:2088 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Failure to t... |
OMIM:212065 |
Galactosemia I |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce... |
OMIM:230400 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Growt... |
OMIM:619418 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... |
OMIM:212138 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Type II diabetes mellitus, Intrauterine growth retardation, Short stature... |
ORPHA:1133 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... |
OMIM:616860 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... |
OMIM:220111 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Failure to thrive, Hepatic steatosis, Steatorrhea,... |
OMIM:616263 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis, Failure to thrive |
OMIM:614924 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... |
ORPHA:890 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... |
ORPHA:79301 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter, Small for gestational... |
OMIM:210740 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Decreased serum zinc, Hepatic st... |
ORPHA:541423 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis, Short stature, Primary adrenal insufficiency |
ORPHA:977 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoketotic hypoglycemia, Growth delay, Hepatic necrosis, Hepatic stea... |
OMIM:231530 |
Short Syndrome |
|
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Severe short s... |
ORPHA:3163 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly |
OMIM:618541 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Elevated creatine kinase after exercise, Elevated circulating acylcarnitine co... |
ORPHA:99901 |
Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Increased se... |
OMIM:500009 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Male infertility, Azoospermia |
ORPHA:98797 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegaly |
OMIM:608971 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... |
ORPHA:567983 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... |
ORPHA:247598 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Hypogonadism, Decreased serum testo... |
OMIM:201100 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Delayed puberty, Growth delay |
OMIM:615704 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Failure to thrive, Female infe... |
OMIM:619518 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Type I diabetes mellitus |
ORPHA:251009 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Hyperammonemia, Elevated plasm... |
ORPHA:2394 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
Adrenomyodystrophy |
|
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Hypoalbuminemia, Intrauterine growth retardation, Ascites, Failure to thrive, Decre... |
OMIM:608104 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hyperalaninemia, Cirrhosis, Macrovesicular ... |
ORPHA:298 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Intrauterine growth retardation, Hypoglycemia, Failure to thrive, Elevated hepatic ... |
OMIM:618958 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... |
ORPHA:79322 |
Werner Syndrome |
|
Secondary amenorrhea, Thyroid carcinoma, Type II diabetes mellitus, Chondrocalcinosis, Short stat... |
ORPHA:902 |
Chylomicron Retention Disease |
|
Growth delay, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, He... |
ORPHA:71 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Left ventricular hypertrophy... |
OMIM:209900 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Failure to thrive |
OMIM:210200 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration |
ORPHA:209919 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hypoglycemia, Short stature, Glycosuria, Large for gestational age, D... |
OMIM:616026 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Growth delay, Ascites, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Hyperalaninemia, H... |
ORPHA:348 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Multiple lipomas, Spleno... |
ORPHA:1414 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Ascites, Failure to thrive, Weig... |
OMIM:619487 |
Immunodeficiency 54 |
|
Hepatomegaly, Adrenal insufficiency, Intrauterine growth retardation, Short stature, Failure to t... |
OMIM:609981 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic steatosis, ... |
OMIM:615486 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Hepatic steatosis, Failure to thrive |
ORPHA:70472 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Short stature, Insulin r... |
ORPHA:813 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Short stature, Female infertility, Male hypogonadism, Abnormal spermat... |
ORPHA:261529 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Central hypothyroidism, Growth delay, Ascites, Short stature, Hyperbi... |
ORPHA:1667 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Short stature, Menorrhagia, Hep... |
ORPHA:79259 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Hyperalaninemia |
OMIM:266150 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Incr... |
OMIM:616278 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoglycemia |
OMIM:246900 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis... |
OMIM:601847 |
Atypical Werner Syndrome |
|
Secondary amenorrhea, Short stature, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemi... |
ORPHA:79474 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... |
ORPHA:90793 |
Isochromosomy Yq |
|
Primary gonadal insufficiency, Male infertility, Azoospermia |
ORPHA:98798 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated circulating glutaric acid con... |
OMIM:231680 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Retrograde ejacu... |
ORPHA:230 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Short stature, Generalized lipodystrophy, Delayed... |
ORPHA:90154 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Vipoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... |
ORPHA:97282 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hepatic steatosis, Short stature |
ORPHA:52430 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
OMIM:617713 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Short stature, Hep... |
ORPHA:98908 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Intrauterine growth retardation, Short stature, Insulin resistance, Abnormal circulating lipid co... |
OMIM:616541 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:86893 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Infertility, Type II diabetes mellitus, Oligomenorrhea, Failure to thrive ... |
OMIM:176270 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... |
OMIM:608836 |
Bloom Syndrome |
|
Oligospermia, Intrauterine growth retardation, Growth delay, Small for gestational age, Azoosperm... |
ORPHA:125 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Glucose intolerance, Impaired glucose tolerance, S... |
OMIM:615630 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... |
OMIM:603552 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... |
OMIM:618528 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... |
OMIM:607765 |
19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic stea... |
ORPHA:254346 |
Pearson Syndrome |
|
Adrenal insufficiency, Hypophosphatemia, Splenomegaly, Postnatal growth retardation, Steatorrhea,... |
ORPHA:699 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... |
ORPHA:228308 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Abnormality of the liver, Hepatomegaly, Decreased plasma carnitine, Mildly elevated creatine kinase |
ORPHA:254864 |
Somatostatinoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... |
ORPHA:97283 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Hepa... |
OMIM:614602 |
Wolman Disease |
|
Hepatomegaly, Adrenal insufficiency, Cachexia, Growth delay, Ascites, Splenomegaly, Steatorrhea, ... |
ORPHA:75233 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... |
OMIM:214950 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hyperbilirubinemia, Short stature, Splenomegaly |
OMIM:613673 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Short stature, Micronodular cir... |
ORPHA:98907 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hepatomegaly, Hyperammonemia |
ORPHA:28 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Ascites, Cardiomegal... |
ORPHA:858 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... |
OMIM:211600 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Hepatomegaly, Short stature, Hyperammonemia |
OMIM:604273 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis, Hypogonadism |
OMIM:619273 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Hyperthreoninemia, Growth delay |
OMIM:204000 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Diffuse hepatic steat... |
ORPHA:746 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, ... |
OMIM:229600 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, Failure to thrive, Pancreatitis, Hepatic steatosis, Hypermethioninemia, Ingu... |
OMIM:236200 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Delayed puberty,... |
ORPHA:3464 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Ascites |
ORPHA:2198 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... |
ORPHA:2137 |
Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:98293 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic failure, ... |
OMIM:235555 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Failure to thrive, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic... |
OMIM:618329 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, H... |
OMIM:300972 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:615285 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Abnormality of iron homeostasis, Adrenal insufficiency, Hypoparathyroidism, Elevate... |
ORPHA:231222 |
Rett Syndrome |
|
Failure to thrive, Hyperammonemia, Increased serum leptin, Cholecystitis, Increased serum pyruvate |
ORPHA:778 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... |
OMIM:619662 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... |
ORPHA:99413 |
Turner Syndrome |
|
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Hyperlipidemia, Short stature, Female infertility, Atypical scarring of ski... |
ORPHA:99226 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly, Type I diabetes melli... |
ORPHA:290 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:610198 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Eleva... |
OMIM:619064 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Ascites, Small for gestational ag... |
OMIM:613658 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... |
OMIM:300635 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism, Elevated hepatic transami... |
ORPHA:445038 |
Ppoma |
|
Increased circulating cortisol level, Intestinal carcinoid, Primary hyperparathyroidism, Intrahep... |
ORPHA:97278 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Hypothyroidism |
OMIM:251900 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Intrauterine growth retardation, Growth delay, Neonatal hypogly... |
ORPHA:66634 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... |
ORPHA:14 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Severe intrauterine growth retardation, Fasting hypoglycemia, Intrauterine growth retardation, Sm... |
ORPHA:96182 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycorti... |
ORPHA:556037 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Decreased body weight, Short stature, Splenomegaly |
OMIM:231000 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:100024 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic trans... |
OMIM:613489 |
Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Hypo... |
ORPHA:358 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Short stature, Insulin-resistant diabetes mellitus, Hypergonadotropic hypog... |
OMIM:268020 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Ascites, Failure to thrive, Cirrhosis, Decreased liver function, Hepatosplenomegaly... |
ORPHA:367 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly |
OMIM:606445 |
Marbach-Rustad Progeroid Syndrome |
|
Intrauterine growth retardation, Growth delay, Short stature, Insulin resistance, Reduced subcuta... |
OMIM:619322 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Cholelit... |
ORPHA:848 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Ascites, Failure to thrive, Hypertyrosinemi... |
OMIM:276700 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycorti... |
ORPHA:556030 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Portal fibrosis, Hypokalemia, Hepatic fibrosis, Failure to thri... |
OMIM:619377 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Contractures involving the joints of the feet, Hepatomegaly, Mild postnatal growth retardation, A... |
ORPHA:456312 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease |
ORPHA:5 |
Short Syndrome |
|
Intrauterine growth retardation, Small for gestational age, Insulin-resistant diabetes mellitus, ... |
OMIM:269880 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure |
OMIM:611126 |
B4Galt1-Cdg |
|
Hepatomegaly, Small for gestational age, Elevated hepatic transaminase, Elevated circulating crea... |
ORPHA:79332 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Failure to thrive, Glycosuria, Diffuse hepatic steatosis, Decreased liver function |
ORPHA:436271 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Hepatomegaly, Diabetes mellitus, Type I diabetes mellitus |
OMIM:560000 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Failure to thrive |
OMIM:613561 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Failure to thrive, Decreased liver f... |
OMIM:124000 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... |
ORPHA:275761 |
Mast Cell Sarcoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:66661 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Failure to thrive, Hepatomegaly, Intrauterine growth retardation, Short stature |
ORPHA:50812 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Hepatomegaly, Failure to thrive, Bile duct proliferation, Primary adrenal insuffic... |
OMIM:261515 |
Glucagonoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... |
ORPHA:97280 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly |
OMIM:614922 |
Grfoma |
|
Neoplasm of the thymus, Increased circulating cortisol level, Intestinal carcinoid, Primary hyper... |
ORPHA:97261 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... |
OMIM:609069 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Intrauterine growth retardation, Growth delay, Elevated circulating creatine kinase... |
OMIM:614576 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... |
ORPHA:234 |
Pfapa Syndrome |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:42642 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Hyperuricemia, Hyperammonemia, Recu... |
ORPHA:20 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Hernia, Short stature, Splenomegaly |
ORPHA:93476 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Failure to thrive, Pancreatitis, Splenomegaly, Hyperammonemia |
ORPHA:79312 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... |
ORPHA:53035 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hypoglycemia, Intrauterine growth retardation, Short stature, Growth delay, Elevate... |
OMIM:608779 |
Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618892 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Beta-Thalassemia Major |
|
Hepatomegaly, Abnormality of iron homeostasis, Adrenal insufficiency, Hypoparathyroidism, Hepatic... |
ORPHA:231214 |
Transketolase Deficiency |
|
Secondary amenorrhea, Hepatomegaly, Elevated circulating ribitol concentration, Proportionate sho... |
ORPHA:488618 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Short stature, Failure to thrive, Pancreatitis, Hyperglycinemia, Hype... |
OMIM:606054 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive, Cardiomegaly, Lipoatrophy, Hypot... |
ORPHA:349 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Decreased HDL cholesterol concentration, Elevated circulating creatin... |
ORPHA:85450 |
Infantile Refsum Disease |
|
Failure to thrive, Hepatomegaly, Short stature, Elevated levels of phytanic acid |
ORPHA:772 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea, Failure to thrive |
OMIM:266510 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Growth delay, Failure to thrive, Splenomegaly, Thyroiditis, Elevated circulating C-... |
OMIM:617388 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Congenital... |
OMIM:610199 |
Leishmaniasis |
|
Hepatomegaly, Weight loss, Splenomegaly, Hypoalbuminemia, Elevated hepatic transaminase |
ORPHA:507 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short stature, Flexion contracture, Hyperlipidemia, Insulin resistance |
ORPHA:90153 |
Transaldolase Deficiency |
|
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Small for gestational age, Failu... |
OMIM:606003 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Scarring alopecia of scalp, Splenomegaly, Choles... |
ORPHA:59303 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Hepatomegaly, Growth delay, Short stature, Splenomegaly, Jaundice |
OMIM:608885 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
Omenn Syndrome |
|
Hypoproteinemia, Hepatomegaly, Failure to thrive, Hypoplasia of the thymus, Splenomegaly |
OMIM:603554 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Short stature, Hepatitis, Splenomegaly, Hypersplenism... |
OMIM:613385 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Elevated circulating creatine kinas... |
OMIM:615356 |
Glutaric Acidemia I |
|
Hypoglycemia, Hepatomegaly, Elevated circulating glutaric acid concentration, Failure to thrive |
OMIM:231670 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Elevated creatine kinase after exer... |
ORPHA:159 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Intrauterine growth retardation, Growth delay, Hypokalemia, Ascites, Small for gest... |
OMIM:619573 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... |
ORPHA:26793 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Short stature, Failure to thrive, Weight loss, Enamel hypoplasia, Thyroiditis, Steat... |
OMIM:212750 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Failure to thrive, Acute hepatitis, Hyperammonemia, Decreased liver function, Hyper... |
OMIM:238970 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... |
OMIM:267700 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Neuroendocrine neoplasm, Ascites, Increased serum serotonin, Biliary tract obstruct... |
ORPHA:100085 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Acholic stools, Annular pancreas, Hypergl... |
OMIM:615710 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Methylmalonic acidemia, Hypoglycemia, Growth delay, Failure to thrive, Hepatic stea... |
ORPHA:17 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Hypothyroidi... |
OMIM:618440 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentration, Short sta... |
OMIM:619423 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Panniculitis, Lipodystrophy, Splenomegaly, Hypertriglyceridemia,... |
OMIM:617591 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... |
ORPHA:171 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Short stature, Pancreatitis... |
OMIM:232200 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... |
ORPHA:131 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... |
OMIM:203700 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... |
ORPHA:273 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Increased hepatocellular lipid droplets, Glycosuria, Decreased l... |
OMIM:220110 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Short stature, Glucose intolerance, Generalized lipodystrophy, Macrovesicular hepat... |
OMIM:619127 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Growth delay, Short stature, Splenomegaly, Jaundice |
OMIM:615631 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Severe Combined Immunodeficiency, X-Linked |
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Failure to thrive, Hepatomegaly, Hypoplasia of the thymus |
OMIM:300400 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Hepatomegaly, Intrauterine growth retardation, Growth delay, Hyperammonemia, Flexion contracture,... |
ORPHA:1194 |
Spermatogenic Failure 38 |
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Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Pediatric-Onset Graves Disease |
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Hepatomegaly, Increased circulating T4 level, Intrauterine growth retardation, Goiter, Puberty an... |
ORPHA:525731 |
Heme Oxygenase 1 Deficiency |
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Hepatomegaly, Growth delay, Asplenia, Increased circulating ferritin concentration, Elevated circ... |
OMIM:614034 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Hepatomegaly, Intrauterine growth retardation, Elevated circulating long chain fatty acid concent... |
OMIM:214110 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine |
OMIM:246450 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Failure to thrive, B... |
OMIM:619525 |
Hyperparathyroidism, Neonatal Severe |
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Elevated circulating parathyroid hormone level, Hypercalcemia, Hepatomegaly, Calcinosis, Failure ... |
OMIM:239200 |
Bronchial Neuroendocrine Tumor |
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Hepatomegaly, Increased serum serotonin, Increased circulating cortisol level, Weight loss, Pulmo... |
ORPHA:97287 |
Macrophage Activation Syndrome |
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Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... |
ORPHA:158061 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Short stature, Pancreatitis... |
OMIM:232220 |
Hepatocellular Carcinoma |
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Hyponatremia, Hypercalcemia, Hepatomegaly, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, ... |
ORPHA:88673 |
Bardet-Biedl Syndrome 9 |
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Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Neuroendocrine Tumor Of The Colon |
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Hepatomegaly, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Carcino... |
ORPHA:100080 |
Mucopolysaccharidosis-Plus Syndrome |
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