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Gene: Oma1 MGI:1914263

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Gene Summary

Name:
OMA1 zinc metallopeptidase
Synonyms:
2010001O09Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating lipase level Oma1em1(IMPC)Hmgu HOM Early adult 9.43×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Oma1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Oma1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistance, Oligosper... OMIM:615703
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hypothermia, Hepatomegaly, Micronodular cirrhosis, Pe... OMIM:251880
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... OMIM:604367
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia, Hypertaurinemia, Elevated circulating aspartate aminotransferase ... OMIM:245400
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Temple Syndrome
Recurrent otitis media, Flexion contracture, Small for gestational age, Maturity-onset diabetes o... OMIM:616222
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Multiple joint contractures, Slender build, Decreased mi... ORPHA:352470
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hepatic failure, Hyp... ORPHA:159
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Hepatomegaly, Foll... OMIM:300635
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Mildly elevated creatine kinase ORPHA:457050
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia OMIM:615026
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Idiopathic Congenital Hypothyroidism
Hypothermia, Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hor... ORPHA:95717
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Hsd10 Mitochondrial Disease
Hypoglycemia, Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology OMIM:300438
Familial Thyroid Dyshormonogenesis
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... ORPHA:95716
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Recurrent fever, Fever, Hepatomegaly, Jaundice, Ski... OMIM:603552
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, H... OMIM:619048
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Inflammatory abnormality of the skin, Hepatomegaly, Hypocalcemia, Hypoproteinemia, H... ORPHA:26793
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... OMIM:606069
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance, Cirrhosis, Maternal di... ORPHA:79083
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... OMIM:615381
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodystrophy, Hypertriglyceri... ORPHA:2348
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Elevat... OMIM:212140
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestati... ORPHA:226313
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-Co... ORPHA:71212
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Splenomegaly, Hepa... OMIM:613101
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... ORPHA:26792
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa... ORPHA:280365
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Decreased activity of mitochondrial complex IV, Patent ductus arteriosus OMIM:616501
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Hypothermia, Macrovesicular hepatic steatosis, Hypog... OMIM:618329
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Fever, Abnormality of the perit... ORPHA:2126
Hemophagocytic Lymphohistiocytosis, Familial, 3
Fever, Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189439
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Nephritis, Hyperinsulinemia, Otitis media, Hypergonadotro... OMIM:203800
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Hypothermia, Decreased thyroid-stimulating hormone level, Prolonged neonatal j... ORPHA:90674
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated ci... OMIM:613327
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypothermia, Hepatomegaly, Flexion contracture, Abnormal mitochondrial shape, ... ORPHA:17
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Permanent Congenital Hypothyroidism
Hypothermia, Thyroid dysgenesis, Hypothyroidism, Umbilical hernia, Goiter, Jaundice ORPHA:226292
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increas... ORPHA:90673
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Li... ORPHA:90970
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Elevated circula... ORPHA:264580
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent fever, Failure to thrive, Sinusitis, Hepatomegaly, Skin rash, Splenomegaly, Flexion con... OMIM:617591
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Genetic Transient Congenital Hypothyroidism
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... ORPHA:226316
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circ... ORPHA:370
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number OMIM:619063
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Fever, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Acute pancre... ORPHA:20
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... OMIM:201475
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, G... ORPHA:412
Congenital Enterovirus Infection
Hypothermia, Fever, Skin rash, Hepatic failure, Hyperammonemia, Myocarditis, Cholestasis, Hepatit... ORPHA:292
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating ... ORPHA:230
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Spontaneous Periodic Hypothermia
Hypothermia, Skin rash ORPHA:29822
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Hypoglycemia, Elevated circulatin... OMIM:261680
H Syndrome
Recurrent fever, Hepatosplenomegaly, Camptodactyly, Chronic rhinitis, Lipodystrophy, Hypertriglyc... ORPHA:168569
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pan... ORPHA:444490
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Recurrent hypoglycemia, Hepatocellul... ORPHA:79240
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... ORPHA:276556
Porphyria Cutanea Tarda
Corneal scarring, Increased circulating ferritin concentration, Recurrent bacterial skin infectio... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Decreased activit... OMIM:614924
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Fever, Hepatomegaly, Elev... ORPHA:158061
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbu... OMIM:619013
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Fever, Elevated circulating C-reactive protein conc... ORPHA:158057
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... ORPHA:99901
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Fever, Hyperlipidemia, Adrenocorticotropic hormone deficiency, Decreased response to... ORPHA:293987
Meningococcal Meningitis
Hypothermia, Fever, Elevated circulating C-reactive protein concentration, Skin rash, Infectious ... ORPHA:33475
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele... OMIM:617253
Primary Erythromelalgia
Hypothermia ORPHA:90026
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Umbilical hernia, Prolonged neon... ORPHA:226307
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Fever, Splenomegaly, Hypertriglyceridemia, Pannicul... OMIM:618398
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Hypothermia, Fever, Abnormality of temperature regulation, Elbow flexion contrac... OMIM:618493
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98855
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Recurrent fever, Fever, Hepatome... OMIM:603553
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Fever, Cholestatic liver ... ORPHA:540
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Congenital Hypothyroidism
Hypothermia, Sinusitis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Thyroid dy... ORPHA:442
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Menkes Disease
Hypothermia, Decreased circulating ceruloplasmin concentration OMIM:309400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Abnormality of the mitochondrion, Cyanosis ORPHA:91130
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98863
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98853
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Fever, Lipid accumulation in hepatocytes, Hepatomegaly, Elevated circulating long chain fatty aci... OMIM:608836
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypothermia, Elevated circulating creatine kinase concentration, Small for gestat... OMIM:618775
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... OMIM:256810
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... ORPHA:300536
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Decreased mit... ORPHA:352447
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant hepatic failure, Hypoketotic hypoglyce... OMIM:231530
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia OMIM:182290
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:232400
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... OMIM:201450
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Decreased activity of mitochondrial complex IV, Hepa... ORPHA:70472
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... OMIM:617575
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive protein concentratio... OMIM:256040
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Recurrent pneumonia, Hypogonadism OMIM:614962
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Reticular Dysgenesis
Failure to thrive, Fever, Skin rash, Chronic otitis media, Aplasia/Hypoplasia of the thymus, Weig... ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:267700
Idiopathic Steroid-Resistant Nephrotic Syndrome
Fever, Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminem... ORPHA:567548
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypothermia, Hyperammonemia, Hypomethioninemia, Elevated circulating palmitole... ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Glycosur... OMIM:231680
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Cirrhosis, Cachexia, Hypogonadotropic hypogonadism, Macrovesicula... ORPHA:298
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Inter... OMIM:223360
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Fever, Colitis, Enterocolitis, Recurrent skin infec... OMIM:619802
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Acne, Increa... OMIM:615830
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hyperbilirubinemia, Decreased resp... OMIM:609734
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Inguinal hernia, Tall stature, Femo... ORPHA:2849
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat... ORPHA:79303
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:619518
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure OMIM:177000
Alexander Disease
Failure to thrive, Hypothermia, Precocious puberty, Hypothyroidism, Infectious encephalitis, Diab... ORPHA:58
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Hyperuricemia, Inflammation of the larg... ORPHA:79259
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus OMIM:144800
Marburg Hemorrhagic Fever
Hypothermia, Fever, Hypokalemia, Pancreatitis, Orchitis, Skin rash, Hyperammonemia, Maculopapular... ORPHA:99826
Blue Diaper Syndrome
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated hepatic transaminase, El... ORPHA:94086
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Smith-Magenis Syndrome
Precocious puberty, Chronic otitis media, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, ... ORPHA:819
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Arthritis, Eleva... ORPHA:905
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Neuroleptic Malignant Syndrome
Hypothermia, Hypomagnesemia, Hypocalcemia, Fever, Aspiration pneumonia, Elevated circulating crea... ORPHA:94093
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... ORPHA:2959
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... OMIM:613070
Ethylene Glycol Poisoning
Hypothermia, Hypocalcemia, Gastritis, Cyanosis, Renal tubular epithelial necrosis, Hyperkalemia ORPHA:31826
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Menkes Disease
Hypothermia, Osteomyelitis, Inguinal hernia, Chondrocalcinosis, Hypoglycemia, Hernia, Umbilical h... ORPHA:565
Gaisböck Syndrome
Hyperproteinemia, Gout, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, H... ORPHA:90041
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Mitochondrial swelling, Arthritis ORPHA:397744
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Precocious puberty, Maturity-onset diabetes of the young, Hypercholestero... ORPHA:254531
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Biliary tra... ORPHA:3191
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Failure to thrive, Glucose intolerance, Small for gestationa... OMIM:606721
Dpm1-Cdg
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent... ORPHA:79322
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:212138
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Central adrenal insufficiency, Hyperthyroidism, Abnormal circulating lipid concentra... ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... OMIM:614582
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, He... OMIM:248370
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Inguinal hernia, Tall stature, Disproportionate tall stature, Hy... OMIM:236200
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
19P13.12 Microdeletion Syndrome
Precocious puberty, Hyperlipidemia, Hypothyroidism, Arthrogryposis multiplex congenita, Obesity, ... ORPHA:254346
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroi... OMIM:218700
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Acne, Hypo... ORPHA:77296
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Cyanosis OMIM:610773
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, Ja... ORPHA:890
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia, Decreased activity of mitoch... OMIM:616672
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Delayed menarche, Abnormality of the mitochondrion ORPHA:330050
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... ORPHA:91
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Werner Syndrome
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... OMIM:277700
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Fever, Hypoplasia of the thymus, Hypertriglyceridem... OMIM:619313
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Acne, Increased body weight, Incre... ORPHA:759
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Fever, Hypothermia, Hepatomegaly, Hepatic failure, Low plasma citrulline, Hype... ORPHA:255210
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... OMIM:614450
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... OMIM:616263
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating... OMIM:615486
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology OMIM:302060
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepatic transaminase,... OMIM:214900
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Lipoatrophy, Type II diabetes mellitus, Hyperinsulinemi... ORPHA:79474
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Pancreatitis, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly, Decre... OMIM:615947
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia, Stomatitis, Pneumonia, Keratoconjunctivitis sicca OMIM:616260
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Hyperuricemia, ... ORPHA:348
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Chilblains, Acute pancreatitis, Elevated hep... OMIM:619487
Halothane Hepatitis
Fever, Viral hepatitis, Hepatitis, Obesity, Jaundice OMIM:234350
Sarcoidosis
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Uveitis, Scarring, Weight loss, Hypotherm... ORPHA:797
Lysosomal Acid Lipase Deficiency
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, S... ORPHA:275761
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Abnormality of mitochondrial metabolism ORPHA:1192
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Steato... ORPHA:470
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... OMIM:500013
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Acne OMIM:615363
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Classical-Like Ehlers-Danlos Syndrome Type 2
Periodontitis, Cellulitis, Inguinal hernia, Widened atrophic scar, Ventral hernia, Hypertriglycer... ORPHA:536532
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Precocious puberty, Small for gestational age, Maturity-onset diabetes of... ORPHA:96184
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... OMIM:611126
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Elevate... ORPHA:98907
Multiple Mitochondrial Dysfunctions Syndrome 3
Recurrent fever, Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita OMIM:615330
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis OMIM:615918
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Fever, Hepatomegaly, Splenomegaly, Abnormal inflamm... ORPHA:158048
Monosomy 13Q34
Obesity, Infantile hypercalcemia, Hepatic steatosis, Insulin resistance ORPHA:96168
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concen... ORPHA:261476
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... OMIM:615954
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Familial Multiple Lipomatosis
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Hypothermia, Flexion contracture, Temperature instability ORPHA:99027
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hepatomegaly, Flexion contracture, Elevated hemoglobin A1c, Generalized lipo... OMIM:619127
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, Ab... ORPHA:77293
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... ORPHA:71
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Hepatomegaly, Joint contracture of the hand, Jaundice, Elevated circulating lo... OMIM:214110
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Hsd10 Disease, Infantile Type
Hypoglycemia, Cyanosis, Abnormality of mitochondrial metabolism, Hyperammonemia ORPHA:391428
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... OMIM:615418
Immunodeficiency 87 And Autoimmunity
Recurrent fever, Hypokalemia, Hepatomegaly, Elevated circulating C-reactive protein concentration... OMIM:619573
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive OMIM:210200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Occipital Horn Syndrome
Hypothermia, Hiatus hernia, Inguinal hernia, Cholestasis, Keloids, Femoral hernia, Hepatitis, Aty... ORPHA:198
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... OMIM:615630
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased liver function, Periodontitis, Recurrent ... ORPHA:167
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... ORPHA:785
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... ORPHA:699
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... OMIM:300972
Bloom Syndrome
Type II diabetes mellitus, Malar rash, Small for gestational age, Elevated hemoglobin A1c, Bronch... OMIM:210900
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Hypoketotic hypoglycemia, Cholestasis, Diffuse hepatic steatosi... ORPHA:746
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis ORPHA:209919
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Fever, Hepatomegaly, Skin rash, Splenomegaly, Atopi... OMIM:615846
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Increased circulating prolactin concentration, Slender build... ORPHA:3455
Rett Syndrome
Failure to thrive, Hyperammonemia, Increased serum pyruvate, Increased serum leptin, Cholecystitis ORPHA:778
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia, Abnormal intrahepatic bile duct morpholo... ORPHA:363618
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... OMIM:203700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Inguinal hernia, Small ... OMIM:613658
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Recurrent pneumonia, Flexion contracture OMIM:616271
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Pituitary ... OMIM:614963
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Glycosuria, Large for gestational age, Elevated hepatic transamin... OMIM:616026
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Patent ductus arteriosus, Hypercalc... ORPHA:369837
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased liver function, Fever, Colitis, Nephritis... ORPHA:2442
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypog... OMIM:124000
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism ORPHA:445038
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... ORPHA:99228
Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... ORPHA:99226
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Glucose intolerance, Hyperthyroidism, Goiter, Elevated circulating creatine ki... ORPHA:254892
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Nephritis, Flexion contracture, Splenomegaly, Macrovesicular hepatic steatosis, Pat... OMIM:617303
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Arthr... ORPHA:93111
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Increased serum testosterone lev... ORPHA:769
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Aspiratio... ORPHA:438213
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Glyco... OMIM:229600
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Recurrent fever, Hypothermia, Osteomyelitis, Recurrent aspiration pneumonia, Fa... ORPHA:642
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Hypothyroidis... ORPHA:66634
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
D-Bifunctional Protein Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Primar... OMIM:261515
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Griscelli Syndrome Type 2
Fever, Hyperlipidemia, Hepatomegaly, Splenomegaly, Jaundice ORPHA:79477
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... OMIM:603233
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability OMIM:608643
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Hypogonadism OMIM:619273
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Leprechaunism
Reduced subcutaneous adipose tissue, Failure to thrive, Postprandial hyperglycemia, Hypokalemia, ... ORPHA:508
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Otitis ... ORPHA:64
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Hypothalamic... ORPHA:398069
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Recurrent otitis media, Hepatomegaly, Inguinal hernia, Splenomegaly, Membranop... OMIM:619525
Alagille Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hepatic failure, Cirrhosis, Hepatocellular ... OMIM:118450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Failure to thrive, Decreased liver function, Hepatomegaly, Glycosuria, Diffuse hepatic steatosis ORPHA:436271
Sotos Syndrome
Glucose intolerance, Tall stature, Otitis media, Overgrowth, Patent ductus arteriosus, Prolonged ... OMIM:117550
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty, Calcinosis ORPHA:90154
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, ... OMIM:619377
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Gout, Hypoglycemia, Elevate... OMIM:232200
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia OMIM:256300
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... OMIM:219090
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Hypogonadotropic hypogonadism, Reactive hypoglycemia OMIM:600955
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Microvesicular hepatic steatosis, Hepatomegaly, Flexion contracture, Cirrhosis, ... OMIM:300868
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Sialuria
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Abnormality of t... ORPHA:3166
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Re... ORPHA:96253
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Abnormality of mitochondrial metabolism ORPHA:88639
Digeorge Syndrome
Cholelithiasis, Decreased circulating parathyroid hormone level, Recurrent otitis media, Hypocalc... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Increased serum testosterone level, Lipoa... OMIM:264090
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemia, Precocious... OMIM:176270
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, He... ORPHA:404454
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:615356
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Recurrent fever, Failure to thrive, Fever, Osteomyelitis, Decreased body weight, Jaundice, Hyperb... OMIM:619475
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis, Hepatomegaly, Hyperlipidemia, Splenomegaly, E... ORPHA:565612
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Precoc... OMIM:270400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Hepatomegaly, Glycosuria, Increased hepatocellular l... OMIM:220110
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Gou... OMIM:232240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Female hypogonadism, Delayed menarche, Osteoarthritis, Cyanosis, Pubert... ORPHA:740
Ogden Syndrome
Microvesicular hepatic steatosis, Hyperbilirubinemia, Inguinal hernia, Eczema, Maternal diabetes,... OMIM:300855
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Pancreatitis, Small for gestational age, Abnormality of thyroi... ORPHA:1830
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Flexion contracture, Azotemia, Hepatic steatosis OMIM:619321
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves... ORPHA:79102
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus ORPHA:439232
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia, Hepatic steatosis, Jaundice OMIM:228100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly ORPHA:31150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Hepat... OMIM:618278
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Hypothyr... ORPHA:1606
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Cholestasis, Thyroid hypoplasia, Flexion contracture, Small ... OMIM:619503
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Fever, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Woodhouse-Sakati Syndrome
Hyperlipidemia, Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypog... OMIM:241080
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Eczematoid dermatitis ORPHA:64745
Carney Complex
Neoplasm of the pancreas, Abdominal obesity, Increased circulating insulin-like growth factor 1 c... ORPHA:1359
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Elevate... ORPHA:280651
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Fever, Elevated circulating gro... ORPHA:79318
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Fabry Disease
Fever, Hyperlipidemia, Abnormal circulating lipid concentration, Arthritis, Delayed puberty, Diab... ORPHA:324
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia, Minimal change glomerulonephritis ORPHA:567546
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Oma1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Oma1.

No publications found that use IMPC mice or data for Oma1.

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MGI Allele Allele Type Produced
Oma1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Oma1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Oma1em1(IMPC)Hmgu Exon Deletion Mice
Oma1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Oma1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Oma1tm301448(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Oma1tm3e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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