Gene Summary

Name:
OMA1 zinc metallopeptidase
Synonyms:
2010001O09Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 1.60×10-05

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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

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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
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
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Insulin resistance, Oligospermia, Hepatic steatosis, Hypertrig... OMIM:615703
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Gout... OMIM:610947
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Fever OMIM:619175
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hepatic steatosis, Lipoatrophy OMIM:613877
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Decreased activity of mitochondrial complex III, Elevated circulating alanine am... OMIM:245400
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Recurrent otitis media, F... OMIM:616222
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Decreased activity of mitochondrial complex III, Hepatic steatosis, Decreased ac... OMIM:619386
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose... ORPHA:528
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Multiple joint contractures, Slender build, Decreased mi... ORPHA:352470
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Elevated hepatic transaminase, Hypoketotic hypo... ORPHA:159
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Ab... OMIM:618528
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hepatic... ORPHA:436182
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Folliculitis, Acne, Inflammation of the large intes... OMIM:300635
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Hyperalaninemia, Failure t... OMIM:618329
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, U... ORPHA:95717
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Hepatomegaly, Hypertriglyceridemia, Jaun... OMIM:603552
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased mitochondrial number ORPHA:457050
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont... OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Inflammatory abnormality of the skin, Overweight, Elevated hepatic... ORPHA:26793
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Hepatomegaly, Hype... ORPHA:2348
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Hepatic steatosis, Imp... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive OMIM:618378
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
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insuli... ORPHA:2457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Hypoglycemia OMIM:300438
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... ORPHA:26792
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent sinusitis, Colitis, Hypertriglyceridemia,... OMIM:613101
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, ... ORPHA:2298
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu... OMIM:616516
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Decreased HDL cho... ORPHA:280365
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Fever, Hepatosplenomegaly OMIM:608898
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipodystr... OMIM:613327
Alstrom Syndrome
Recurrent pneumonia, Nephritis, Hyperinsulinemia, Multinodular goiter, Elevated hepatic transamin... OMIM:203800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Small for g... OMIM:307030
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... ORPHA:90674
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Hyp... ORPHA:2126
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypersplenism, Cirrhosis, Increased hepatic echogenicity, Acute hepatic fai... OMIM:278000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Hepatic steatosis... ORPHA:17
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, H... ORPHA:2088
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Thyroid dysgenesis, Jaundice, Hypothermia ORPHA:226292
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic failure, Fa... OMIM:617872
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Barth Syndrome
Abnormal mitochondrial morphology, Failure to thrive OMIM:302060
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:608594
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Lipodystrophy, Panniculitis, Flexion contracture, Hepat... OMIM:617591
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Decreased activity of mitochondrial complex IV, Hypothermia, Patent ductus arteriosus OMIM:616501
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number OMIM:619063
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:269700
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Splenomegaly, Type ... ORPHA:90970
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, ... OMIM:201475
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Elevated hepatic transaminase, Nonketotic hypoglycemia, Lipid accumulation in hep... ORPHA:20
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Jaundice, Hepatic failure, S... ORPHA:75234
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepati... ORPHA:228305
Congenital Enterovirus Infection
Skin rash, Cholestasis, Hepatitis, Hypoalbuminemia, Hepatic failure, Myocarditis, Encephalitis, H... ORPHA:292
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
H Syndrome
Azoospermia, Bronchiectasis, Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Delayed puberty,... ORPHA:168569
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatom... ORPHA:412
Spontaneous Periodic Hypothermia
Skin rash, Hypothermia ORPHA:29822
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Elevate... OMIM:255120
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Elevated hepatic transaminase, ... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex III, Macrovesicular hepatic steatosis, Cholestasis, H... OMIM:614924
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Acute pancreatitis, Recurrent pancreatitis, Hypertrigly... ORPHA:444490
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Malignant hyperthermia, Hepatic steatosis, Intrahepatic cholestasi... OMIM:614921
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Premature adrenarche, Central hypothyroidism, Hyponatremia, Decrea... ORPHA:293987
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglyc... ORPHA:99901
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hypertriglycer... OMIM:619013
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Meningococcal Meningitis
Skin rash, Encephalitis, Elevated circulating C-reactive protein concentration, Hypothermia, Fever ORPHA:33475
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia, Splenomegaly, F... OMIM:618398
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98855
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Primary Erythromelalgia
Hypothermia ORPHA:90026
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Recurrent pneumonia, Abnormality of temperature regulation, Hypothermia, Elbow f... OMIM:618493
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Cyanosis, Failure to thrive ORPHA:91130
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Menkes Disease
Hypothermia OMIM:309400
Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Thyroid dysgenesis, Prolonged neonatal jaundice, Abnorm... ORPHA:442
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98863
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Elevated hepatic transaminase, Erythrode... ORPHA:540
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98853
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Arthritis, Recurrent fever, Obesity OMIM:300310
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Skin ra... OMIM:603553
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... OMIM:201450
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Hepatic steatosis, Renal tubular epit... ORPHA:228308
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Decreased mit... ORPHA:352447
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormality of the thyroid gland, Hypertriglyceridemia, Increased body weight OMIM:182290
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Hypoalbuminemia, Hypog... OMIM:617575
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hypothermia, Small for gestational age, Chole... OMIM:618775
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Primary hypot... ORPHA:300536
Proteasome-Associated Autoinflammatory Syndrome 1
Impaired glucose tolerance, Elevated circulating thyroid-stimulating hormone concentration, Eleva... OMIM:256040
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic fibrosis, Elevated circulating... OMIM:232400
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria, He... OMIM:231680
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Reticular Dysgenesis
Skin rash, Chronic otitis media, Aplasia/Hypoplasia of the thymus, Weight loss, Failure to thrive... ORPHA:33355
Leptin Deficiency Or Dysfunction
Hypogonadism, Recurrent pneumonia, Decreased serum leptin, Obesity OMIM:614962
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Hypoglycemia, Jaundice, Hypomethioninemia, Methylmalonic acidemia, Failure to thrive,... ORPHA:79282
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Decreased activity of mitochondrial complex IV, Obesity OMIM:619058
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Failure to thrive, Mitochondrial respiratory chain defects, Hypogonadism ORPHA:163693
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Abnormality of the mito... ORPHA:298
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Hyperbilirubinemia, Cholestas... OMIM:609734
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepato... OMIM:600649
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Eczema, Cholelithiasis OMIM:177000
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... OMIM:615830
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Yellow Fever
Malignant hyperthermia, Acute hepatic failure, Jaundice, Encephalitis, Hypothermia, Fever ORPHA:99829
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, H... ORPHA:2959
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Elevated hepatic transaminase, Nonke... OMIM:608836
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Hyperlipidemia, H... ORPHA:79259
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Inguinal hernia, Type II dia... ORPHA:3191
Alexander Disease
Hypothyroidism, Encephalitis, Failure to thrive, Diabetes mellitus, Hypothermia, Precocious puberty ORPHA:58
Perlman Syndrome
Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas ... ORPHA:2849
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Mildly elevated creatine kinase, Arthritis ORPHA:397744
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Neuroleptic Malignant Syndrome
Hypocalcemia, Elevated hepatic transaminase, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated... ORPHA:94093
Menkes Disease
Chondrocalcinosis, Atypical scarring of skin, Hypoglycemia, Umbilical hernia, Prolonged neonatal ... ORPHA:565
Ethylene Glycol Poisoning
Hypocalcemia, Renal tubular epithelial necrosis, Gastritis, Cyanosis, Hypothermia, Hyperkalemia ORPHA:31826
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Recurrent otitis media, Precocious pu... ORPHA:254531
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Abnormal circulating lipid concentration, Central adrenal insufficiency, Eczema, ... ORPHA:488632
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Chronic otitis media, Failure to thrive in infancy, Hypertr... ORPHA:819
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Lipodystr... OMIM:248370
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituitary prolact... ORPHA:97279
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutane... OMIM:212065
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Tall stature, Type II diab... ORPHA:91
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Dec... ORPHA:541423
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Disproportionate tall stature, Hypermethioninemia, Tall stature, Inguinal hern... OMIM:236200
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Abnormal mitochondrial shape OMIM:610773
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Precocious... ORPHA:254346
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... OMIM:212138
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Hepatomegaly, Hyperalaninemia, Hepatic failure, Failure to thrive, Hypothe... ORPHA:255210
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body ... ORPHA:890
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hepatic... OMIM:616263
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Hypothyroidism, Recurrent otitis media, Flexion contracture, Decreased serum iron, Fa... ORPHA:391372
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia OMIM:223360
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p... ORPHA:470
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Fever, Obesity OMIM:234350
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Delayed menarche ORPHA:330050
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Type I diabetes mellitus ORPHA:1192
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita, Recurrent fever OMIM:615330
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Crimean-Congo Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Hepatic steatosis, Uveitis, Jaundice, Fever ORPHA:99827
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hy... ORPHA:348
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De... OMIM:500013
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Hyperbilirubinemia, Elevated circulating thyroid-stimul... OMIM:218700
Tenorio Syndrome
Stomatitis, Pneumonia, Hypoglycemia, Hypoinsulinemia, Keratoconjunctivitis sicca OMIM:616260
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Periodontitis, Umbilical hernia, Hypertriglyceridemia, Inguinal hernia, Keratoconjunc... ORPHA:536532
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Renal tubular epithelial necrosis, De... ORPHA:157
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Fatal liver failure in infancy, Microvesicular hepatic steatos... ORPHA:275761
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, Hypertriglyceridemia, Hyp... OMIM:619313
Atypical Werner Syndrome
Hyperinsulinemia, Hyperglycemia, Chondrocalcinosis, Abnormality of circulating leptin level, Hepa... ORPHA:79474
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal obesi... ORPHA:96184
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Failure to thrive, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Recurrent otitis media, Elevated circulating creatine kinase conce... ORPHA:261476
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Inflammation of the large intestine, Eleva... ORPHA:2137
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion, Camptodactyly, Elevated circulating long chain fatty acid conce... OMIM:214110
Monosomy 13Q34
Infantile hypercalcemia, Hepatic steatosis, Obesity, Insulin resistance ORPHA:96168
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue, Hyperlipidemia ORPHA:199276
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Acne OMIM:615363
Hsd10 Disease, Infantile Type
Abnormality of mitochondrial metabolism, Hyperammonemia, Cyanosis, Hypoglycemia ORPHA:391428
Sarcoidosis
Bronchiectasis, Maculopapular exanthema, Weight loss, Decreased liver function, Hypercalcemia, Hy... ORPHA:797
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Niemann-Pick Disease Type B
Cirrhosis, Decreased serum insulin-like growth factor 1, Abnormal circulating lipid concentration... ORPHA:77293
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia, Aspiration pneumonia, Flexion contracture ORPHA:99027
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism, Hypoalbuminemia, Obesity ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia, Failure to thrive OMIM:615863
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Elevated hemoglobin A1c, Macrovesicular hepat... OMIM:619127
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hypothyroidism, Hepatic steatosis,... ORPHA:14
Occipital Horn Syndrome
Hiatus hernia, Esophagitis, Atypical scarring of skin, Scarring, Keloids, Cholestasis, Jaundice, ... ORPHA:198
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Skin rash, Hypoproteinemia, Elevated hepatic transa... ORPHA:167
Pearson Syndrome
Hypocalcemia, Pancreatic fibrosis, Small for gestational age, Hypomagnesemia, Hepatic failure, Hy... ORPHA:699
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoketotic hypoglycemia, Chronic hepatic failure, Failure to thrive in infancy, Ch... ORPHA:746
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hypothyroidism... OMIM:615486
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormality o... ORPHA:363618
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholest... OMIM:613658
Wiedemann-Rautenstrauch Syndrome
Congenital generalized lipodystrophy, Type II diabetes mellitus, Increased subcutaneous truncal a... ORPHA:3455
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Delayed puberty, Diabetes mell... OMIM:614963
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Large for gestational age, Diabetes mellitus OMIM:616026
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia... OMIM:229600
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Hypertriglyceridemia, Hypercalcemia, Hypoparathyroidism, Precocious pub... ORPHA:369837
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Failure to thrive ORPHA:543470
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:99226
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Chola... OMIM:124000
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Inflammation of the large intestine, Elevated hepat... ORPHA:2442
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Flexion contracture, Macrovesicular hepatic steatosis, Patent ductus arterio... OMIM:617303
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Glucose intolerance, Elevated hepatic transaminase, Hypothyroidism, Abnormality of the mi... ORPHA:254892
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hyperuricemia, Jaundice, Arthri... ORPHA:93111
Hereditary Sensory And Autonomic Neuropathy Type 4
Osteomyelitis, Atypical scarring of skin, Septic arthritis, Corneal scarring, Recurrent fever, Un... ORPHA:642
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive ORPHA:977
Rett Syndrome
Increased serum pyruvate, Increased serum leptin, Failure to thrive, Cholecystitis, Hyperammonemia ORPHA:778
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis ORPHA:445038
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Abnormal... OMIM:203700
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Increased circulating androgen concentr... ORPHA:769
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp... OMIM:238600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Hypothyroidism, Patent ductus arteriosus, Decreased serum ... ORPHA:438213
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Splenomegaly, Fever, Hyperlipidemia ORPHA:79477
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Hypothyro... ORPHA:66634
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Type II diabetes mellitus ORPHA:401923
Magel2-Related Prader-Willi-Like Syndrome
Temperature instability, Abdominal obesity, Premature pubarche, Central hypothyroidism, Hypothala... ORPHA:398069
Alagille Syndrome 1
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Reduced number of intrahepatic bi... OMIM:118450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hepatomegaly, Decreased liver function, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Abnormal circulating thyroglobulin level, Pituitary h... ORPHA:99832
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia OMIM:608643
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly, Hypogonadism OMIM:619273
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Cowden syndrome 3
Neoplasm of the thyroid gland, Abnormality of mitochondrial metabolism OMIM:615106
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:612462
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, Pr... OMIM:261515
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Flexion contracture, Absence of subcutaneous fat, Hypertriglyceridemia, Failure to t... OMIM:264090
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Obesity, Increased circulating ACTH level, Hypok... OMIM:219090
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia... OMIM:232200
Prader-Willi Syndrome
Temperature instability, Hyperinsulinemia, Failure to thrive in infancy, Obesity, Adrenal insuffi... OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Sialuria
Elevated hepatic transaminase, Abnormality of the mitochondrion, Cholelithiasis, Hepatomegaly, He... ORPHA:3166
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating... OMIM:615356
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypotrig... ORPHA:404454
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism, Failure to thrive ORPHA:88639
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia... OMIM:232220
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:91355
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Abnormality of mitochondrial metabolism, Inguinal hernia, Hyperalaninemia, Smal... OMIM:614052
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Glycosuria, Hepatomegaly, Decreased liver function, Fail... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Splenomegaly, Elevated circulating creatine kinase concentration, Dia... ORPHA:565612
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Glycogen Storage Disease Ic
Xanthelasma, Chronic pancreatitis, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia, Hepatom... OMIM:232240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Failure to thrive, Pancreatitis, Abnormality of thyroid physiology, Hy... ORPHA:1830
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Hypoglycemia, Hypocalcemia OMIM:228100
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Thyrotoxicosis with toxic single t... ORPHA:79102
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia ORPHA:31150
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hepatic steatosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary OMIM:619321
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Abnormality of the spleen, Hepatic steatosis, Patent duc... ORPHA:1606
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Obesity, Congenital hypothyroidism, Elevated circulating ... ORPHA:280651
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Increased body weight ORPHA:64745
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Fever, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Pseudohypoparathyroidism, Hypothyroidis... ORPHA:116
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Elevated circulatin... OMIM:241080
Manganese Poisoning
Abnormality of mitochondrial metabolism ORPHA:306682
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Type I diabetes mellitus, Dentinogenesis imperfecta, Precocious puberty, Obesity OMIM:619269
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Elevated hepatic transaminas... ORPHA:79318
Digeorge Syndrome
Hypocalcemia, Seborrheic dermatitis, Decreased circulating parathyroid hormone level, Hypothyroid... OMIM:188400
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Elevated hepatic transaminase, Insulin... ORPHA:273
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Fabry Disease
Abnormal circulating lipid concentration, Delayed puberty, Diabetes insipidus, Fever, Hyperlipide... ORPHA:324
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Minimal change glomerulonephritis ORPHA:567546
Hellp Syndrome
Increased body weight, Elevated hepatic transaminase ORPHA:244242
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormality of mitochondrial metabolism ORPHA:314404

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
Oma1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Oma1tm301448(L1L2_Bact_P) Targeting vectors
Oma1em1(IMPC)Hmgu Exon Deletion Mice
Oma1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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