Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 1 |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
Hypertriglyceridemia, Transient Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Neutral Lipid Storage Disease With Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Muscle Cramps, Familial |
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Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
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Elevated circulating creatine kinase concentration |
OMIM:218050 |
Lipodystrophy, Familial Partial, Type 3 |
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Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Glycogen Storage Disease Iii |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... |
ORPHA:369 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Neonatal Hemochromatosis |
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Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Lipodystrophy, Familial Partial, Type 6 |
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Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 4 |
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Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Impaired glucose tolerance, Gout, Increased LDL cholesterol concentration, ... |
OMIM:610947 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hemochromatosis, Neonatal |
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Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Lipodystrophy, Familial Partial, Type 2 |
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Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Lipase Deficiency, Combined |
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Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Intracranial Hypertension, Idiopathic |
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Hypertension |
OMIM:243200 |
Lipodystrophy, Familial Partial, Type 5 |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... |
OMIM:300635 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Atherosclerosis Susceptibility |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Precocious puberty in females, Lipodystrop... |
ORPHA:528 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... |
ORPHA:276575 |
Abdominal Obesity-Metabolic Syndrome 1 |
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Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
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Hypertension |
OMIM:605572 |
Multiple Symmetric Lipomatosis |
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Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Diarrhea 13 |
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Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... |
OMIM:301033 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Sitosterolemia 2 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Myopathy, Distal, With Anterior Tibial Onset |
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Loss of ambulation, Elevated circulating creatine kinase concentration |
OMIM:606768 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... |
ORPHA:79319 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hypergonadotro... |
ORPHA:79237 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... |
ORPHA:79230 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Progressive loss of facial adipose t... |
OMIM:608709 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... |
OMIM:603552 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... |
ORPHA:2298 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... |
OMIM:607155 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Increased circulating interleukin 10 concentration, Portal inflammation, Elevated circulating ala... |
OMIM:613759 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyper... |
OMIM:602579 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... |
ORPHA:158061 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:613818 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:79083 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera... |
ORPHA:2088 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... |
ORPHA:171706 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:2348 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Recurrent otitis media, Hyperc... |
ORPHA:254531 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Decreased circulating Ig... |
OMIM:620282 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa... |
OMIM:619013 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... |
OMIM:606612 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains, Intestinal inflammation, Hep... |
OMIM:619858 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... |
ORPHA:26792 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... |
ORPHA:2056 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... |
OMIM:611182 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp... |
ORPHA:465508 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal obesity, Delayed puber... |
ORPHA:633 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity, Delayed puberty |
ORPHA:140941 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl... |
OMIM:617253 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:412 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... |
OMIM:201475 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... |
OMIM:203800 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Immunodeficiency 47 |
|
Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circulating copper... |
OMIM:300972 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased lecithin cholesterol acy... |
OMIM:245900 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotr... |
OMIM:261680 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... |
ORPHA:79303 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... |
ORPHA:540 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran... |
ORPHA:681 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Ja... |
ORPHA:444490 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Abnormality ... |
ORPHA:186 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... |
OMIM:246200 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure |
OMIM:177000 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... |
ORPHA:71 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... |
OMIM:615453 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... |
ORPHA:96184 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Sinus... |
OMIM:617591 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:269700 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Hyperchole... |
ORPHA:567548 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema |
OMIM:176090 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... |
ORPHA:541423 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat... |
OMIM:301045 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Very long c... |
ORPHA:98908 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Decreased circulating ceruloplasmin concen... |
ORPHA:48818 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Failure to thrive, Hypergonadotro... |
OMIM:212065 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... |
OMIM:178110 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... |
ORPHA:30391 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Splenomeg... |
OMIM:308230 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp... |
ORPHA:275761 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma... |
ORPHA:33110 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... |
OMIM:113000 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... |
OMIM:615710 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Adrenal insufficiency, Hypoalbuminemia, Hypogonadism, Hypothy... |
OMIM:617575 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E... |
ORPHA:171 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... |
OMIM:277700 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... |
ORPHA:440713 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... |
ORPHA:231226 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Pitui... |
ORPHA:90674 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu... |
OMIM:238970 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:99901 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome... |
ORPHA:169160 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... |
ORPHA:2345 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho... |
OMIM:614602 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis,... |
OMIM:619487 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... |
ORPHA:848 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Recurrent skin infections, Eczema, Increased circulating ferritin concentra... |
OMIM:619802 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculop... |
ORPHA:39812 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre... |
OMIM:603553 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Gout, Hyperproteinemi... |
ORPHA:90041 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Gait disturbance, Scoliosis |
ORPHA:1445 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody level, Abnormal c... |
ORPHA:381 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... |
ORPHA:14 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia, Minimal change glomerulonephritis |
OMIM:616730 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hyp... |
ORPHA:79259 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis... |
OMIM:615207 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma, ... |
OMIM:304790 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... |
ORPHA:91 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Retrobulbar optic neuritis, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... |
ORPHA:231214 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... |
OMIM:616033 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Akinesia, Fl... |
OMIM:253290 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... |
OMIM:194380 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... |
OMIM:619313 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep... |
OMIM:613385 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os... |
ORPHA:36234 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... |
ORPHA:73272 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... |
ORPHA:562639 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... |
OMIM:175700 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Elevated ... |
OMIM:210250 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... |
OMIM:616263 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure,... |
ORPHA:292 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Insulin resistance, M... |
ORPHA:3452 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... |
ORPHA:2332 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Senior-Loken Syndrome 9 |
|
Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism, Hepatic fibrosis |
OMIM:616629 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... |
ORPHA:508 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... |
ORPHA:819 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Failur... |
ORPHA:3008 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity |
ORPHA:96168 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... |
OMIM:606003 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Abnormality of the pancreas, Splenome... |
OMIM:222470 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:158048 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Re... |
OMIM:214150 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Celluli... |
ORPHA:549 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Decreased circulatin... |
ORPHA:572 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... |
OMIM:209920 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis |
OMIM:615583 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Spleno... |
OMIM:308240 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Psoriasiform dermatitis, Bronchiectasis, ... |
ORPHA:168569 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... |
OMIM:618329 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Hepatitis |
ORPHA:363523 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... |
ORPHA:228426 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperthyroidism, Elevated circulating growth hormone concentration... |
ORPHA:562 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Eczema, Minimal change glomerulonephritis |
OMIM:618348 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ... |
ORPHA:52430 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Cyanosis, Decreased response to growth hormone stimu... |
ORPHA:293987 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnor... |
ORPHA:79474 |
Mednik Syndrome |
|
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... |
OMIM:609313 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617049 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Small for gestational age, Gastritis, Hypothyroidism, Splenomegaly... |
ORPHA:84064 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... |
ORPHA:915 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... |
OMIM:307030 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... |
OMIM:216360 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Myasthenia Gravis |
|
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, ... |
ORPHA:589 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,... |
ORPHA:227990 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... |
ORPHA:300536 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... |
ORPHA:227982 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age |
ORPHA:439167 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... |
ORPHA:363618 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi... |
OMIM:240300 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Decreased 3-hydroxyacyl-CoA d... |
OMIM:231530 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreatitis |
OMIM:619471 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, ... |
ORPHA:254346 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Elevated circu... |
OMIM:619573 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... |
ORPHA:139402 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero... |
ORPHA:415 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Ataxia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Nephronophthisis 16 |
|
Periportal fibrosis, Cholestasis |
OMIM:615382 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatic steatosis, Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased ... |
OMIM:615846 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... |
OMIM:232200 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... |
ORPHA:333 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... |
OMIM:208500 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Elevated alkaline phos... |
OMIM:615363 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis, Obesity |
ORPHA:110 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepatic steatosis, Decr... |
ORPHA:70472 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:263210 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... |
OMIM:616541 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas |
ORPHA:210548 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... |
OMIM:619127 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Hypogonadism, Obesity |
OMIM:615996 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... |
ORPHA:466677 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Exocrine pancreatic insuffi... |
OMIM:620005 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Inflammat... |
ORPHA:565612 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczema... |
ORPHA:83471 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Decreased circulating IgG l... |
ORPHA:3261 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... |
OMIM:118450 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Osteolysis, Fus... |
OMIM:612852 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, P... |
OMIM:236200 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... |
ORPHA:536532 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Estrogen Resistance Syndrome |
|
Acne, Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level... |
ORPHA:785 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Psoriasiform dermatitis, Enterocolitis, Decreased circulating antibody level, Agamma... |
OMIM:243150 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Abnormality of the endocrine system, Thyroiditis, H... |
ORPHA:391487 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Recurrent bacterial skin infections, Hypertriglyceri... |
ORPHA:167 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... |
ORPHA:746 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular ca... |
OMIM:232220 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Portal hypertension, Congenital hep... |
ORPHA:1454 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, He... |
ORPHA:90062 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... |
OMIM:618000 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia... |
ORPHA:358 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:615273 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... |
OMIM:150250 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... |
OMIM:229600 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... |
OMIM:619534 |
Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Pneumonia, Skin rash, Adipose tissue loss, Insulin ... |
ORPHA:125 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Elevated circulating C-reactive protei... |
OMIM:619381 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... |
ORPHA:96169 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... |
OMIM:130720 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Difficulty walking |
ORPHA:370010 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... |
ORPHA:2959 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancre... |
OMIM:619991 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity |
ORPHA:289522 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circula... |
OMIM:210900 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... |
ORPHA:66634 |
Werner Syndrome |
|
Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes... |
ORPHA:902 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... |
OMIM:613658 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Low alkalin... |
ORPHA:369837 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... |
OMIM:171480 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Inguinal hernia, Malformation of the hepatic ductal plate, Tubulointerstitial nephr... |
OMIM:218330 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Jaundic... |
ORPHA:20 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG... |
ORPHA:319251 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin... |
OMIM:260370 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets... |
OMIM:220111 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... |
ORPHA:699 |
Lowe Oculocerebrorenal Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:309000 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... |
ORPHA:813 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis |
OMIM:614091 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Scoliosis, J... |
OMIM:610443 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... |
OMIM:213980 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Redu... |
ORPHA:556955 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... |
ORPHA:90301 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipi... |
OMIM:232240 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Gait ataxia, Fused cervical vertebrae, Progressive cerebellar ataxia, Scoliosis, Cerv... |
ORPHA:268882 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:355 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Failure to thrive, Cirrhosis, Portal hypertension |
ORPHA:974 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99226 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Recurrent pneumonia, Increased circulating IgM l... |
OMIM:617303 |
Meckel Syndrome 14 |
|
Cyanosis, Hepatic fibrosis |
OMIM:619879 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Hepatic fibrosis |
OMIM:613989 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Inguinal hernia, Umbilical hernia, Hepatitis |
ORPHA:584 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Zygomycosis |
|
Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonit... |
ORPHA:73263 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... |
OMIM:610198 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hypothyroidism, Hepa... |
ORPHA:1855 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... |
OMIM:600001 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Small for gestational age, Elevated circulati... |
OMIM:243800 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme ... |
ORPHA:17 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal dental enamel morphology, Skin rash, Hepatitis |
ORPHA:1334 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellit... |
ORPHA:436252 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ... |
OMIM:268310 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Gait imbalance, Flat acetabular roof |
OMIM:617159 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphol... |
ORPHA:534 |
Otopalatodigital Syndrome Type 2 |
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Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Sc... |
ORPHA:90652 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogo... |
ORPHA:79318 |
Joubert Syndrome 1 |
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Hepatic fibrosis |
OMIM:213300 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ... |
OMIM:109400 |
Marbach-Rustad Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Shashi-Pena Syndrome |
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Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
Nephronophthisis 3 |
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Hepatic fibrosis |
OMIM:604387 |
Nephronophthisis 11 |
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Hepatic fibrosis |
OMIM:613550 |
3-Methylglutaconic Aciduria, Type Viib |
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Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia, Recurrent pneumonia |
OMIM:616271 |
Chanarin-Dorfman Syndrome |
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Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Prader-Willi Syndrome |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Arima Syndrome |
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Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Wiedemann-Rautenstrauch Syndrome |
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Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decreas... |
ORPHA:3455 |
Primary Sjögren Syndrome |
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Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive |
ORPHA:436271 |
Acute Disseminated Encephalomyelitis |
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Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Frontometaphyseal Dysplasia |
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Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Limb j... |
ORPHA:404454 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Cimdag Syndrome |
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Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Kbg Syndrome |
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Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Myhre Syndrome |
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Vertebral fusion, Ataxia, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged ver... |
OMIM:139210 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Fanconi Anemia, Complementation Group I |
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Fused cervical vertebrae, Short neck |
OMIM:609053 |
Orofaciodigital Syndrome I |
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Pancreatic cysts, Enamel hypoplasia, Hepatic fibrosis, Hepatic cysts |
OMIM:311200 |
Relapsing Polychondritis |
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Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
Idiopathic Hypereosinophilic Syndrome |
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Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... |
ORPHA:3260 |
Short-Rib Thoracic Dysplasia 12 |
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Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Periportal fibrosis |
OMIM:269860 |
Alg9-Cdg |
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Omphalocele, Hepatomegaly, Lipodystrophy, Periportal fibrosis, Hypoplasia of the ovary, Hepatic c... |
ORPHA:79328 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... |
OMIM:619525 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Bacteria... |
ORPHA:2072 |
Schimke Immuno-Osseous Dysplasia |
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Small for gestational age, Abnormality of thyroid physiology, Minimal change glomerulonephritis, ... |
ORPHA:1830 |
Duane Retraction Syndrome |
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Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In... |
OMIM:220110 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pancreatic fibrosis, Hepatic fibrosis |
OMIM:263520 |
Occipital Horn Syndrome |
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Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cholestasis, Atypi... |
ORPHA:198 |
Thalidomide Embryopathy |
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Insulin resistance, Chronic rhinitis |
ORPHA:3312 |
Lujo Hemorrhagic Fever |
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Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... |
ORPHA:319213 |
Kawasaki Disease |
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Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... |
ORPHA:2331 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Failure to thrive, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepat... |
OMIM:618278 |
Woodhouse-Sakati Syndrome |
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Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Atelosteogenesis, Type I |
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Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... |
OMIM:108720 |
Wiedemann-Rautenstrauch Syndrome |
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Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... |
OMIM:264090 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Decreased response to growth hormone stimulation test, Obesity, Aspiration pneumonia, Hyperglycem... |
ORPHA:444077 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Eczema, Precocious puberty, Splenomegaly, Cholestatic liver disease, Hypoalbuminemi... |
OMIM:270400 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Vertebral fusion, Hyperextensible hand joints, Camptodactyly |
OMIM:227330 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis |
OMIM:619321 |
Simpson-Golabi-Behmel Syndrome |
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Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... |
ORPHA:373 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Hip dislocation... |
ORPHA:508498 |
Apert Syndrome |
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Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Hip contracture, Large for gestational age, Seborrheic dermatitis, Microvesicular h... |
OMIM:300868 |
Acro-Renal-Ocular Syndrome |
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Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Thakker-Donnai Syndrome |
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Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia, Minimal change glomerulonephritis |
ORPHA:567546 |
Aicardi Syndrome |
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Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis |
OMIM:304050 |
Duane-Radial Ray Syndrome |
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Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
Digeorge Syndrome |
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Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p... |
OMIM:188400 |
Aicardi Syndrome |
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Block vertebrae, Butterfly vertebrae, Scoliosis |
ORPHA:50 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dislocation, Abnormal... |
OMIM:194190 |
Hutchinson-Gilford Progeria Syndrome |
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Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... |
OMIM:617137 |
Apert Syndrome |
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Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Robinow Syndrome |
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Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis |
ORPHA:97360 |
Tenorio Syndrome |
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Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hyp... |
OMIM:616260 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... |
OMIM:203700 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of... |
OMIM:157800 |
Ogden Syndrome |
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Inguinal hernia, Eczema, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macrovesi... |
OMIM:300855 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Failure to thrive, Osteomyelitis, Overweight, Jaundice, Obesity, H... |
OMIM:619475 |
Thrombocytopenia-Absent Radius Syndrome |
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Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patellar dislocation, Carpal synosto... |
OMIM:274000 |
Chops Syndrome |
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Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract... |
OMIM:619503 |
Leukocyte Adhesion Deficiency |
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Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk... |
ORPHA:2968 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... |
OMIM:613458 |
Fabry Disease |
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Hyperlipidemia, Arthritis, Delayed puberty, Abnormal circulating lipid concentration, Diabetes in... |
ORPHA:324 |
1P36 Deletion Syndrome |
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Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Obesity, Abnormality of th... |
ORPHA:1606 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Fused cervical vertebrae, Coronal craniosynostosis, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Omphalocele, Congenital hepatic fibrosis |
ORPHA:93271 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... |
ORPHA:51608 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Craniofacial Microsomia 1 |
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Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |