banner
Genes Phenotypes Help, News, Blog

Gene: Oma1 MGI:1914263

Log in to follow

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 9.37×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

View images
X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Azoospermia, In... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, R... OMIM:612526
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Skin rash, Fever, Splenomegaly, Failure to thrive in infancy OMIM:619175
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hypothermia, Decreased activity of mitochondrial complex I, Elevated circulating... OMIM:245400
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomegaly, Per... OMIM:251880
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Hyperalaninemia, Abnormal mitochondrial morphology... OMIM:618378
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased mitochondrial number, Increased intramyocellular lipid... ORPHA:457050
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Loss of trun... OMIM:608709
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypoglycemia, Hyper... OMIM:617872
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Precocious puberty in femal... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Hepatomegaly, Reduc... ORPHA:363400
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Decreased circulatin... ORPHA:95717
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic h... ORPHA:159
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Slender build, Multiple joint contractures, Decreased mi... ORPHA:352470
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Folliculitis, Fever, Inflammation of the large intestine, Rec... OMIM:300635
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Ab... ORPHA:552
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal circulating... ORPHA:95716
Hsd10 Mitochondrial Disease
Hypoglycemia, Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology OMIM:300438
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Skin rash, Fever, Recurrent fever, Splenomegaly, Co... OMIM:603552
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:619048
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Elevated circulating hepatic transaminase concentration, Jaundice, Hypoketotic hypog... ORPHA:26793
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal obesi... OMIM:616222
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hype... ORPHA:79083
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Glucose intolerance, Impai... OMIM:606069
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Hypoth... ORPHA:226313
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... ORPHA:324575
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... ORPHA:71212
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71526
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ... ORPHA:2298
Timothy Syndrome
Hypothermia, Hypocalcemia, Hypothyroidism, Patent ductus arteriosus, Pneumonia, Hypoglycemia OMIM:601005
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Failure to thrive, Hepati... ORPHA:26792
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypothermia, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:17
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Pann... ORPHA:79086
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight OMIM:613375
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Hypothermia, Elevated circulating hepatic transaminase concentration, M... OMIM:618329
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Fever, Recurrent fever, Recurrent sinusitis, Hepatosplenomegaly, Splenomega... OMIM:613101
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Abnormal circulating thyroglobulin conc... ORPHA:90674
Obesity And Hypopigmentation
Hepatic steatosis, Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Hepatic steatosis, Pa... ORPHA:280365
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Decreased activity of mitochondrial complex IV, Patent ductus arteriosus OMIM:616501
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate... OMIM:616516
Dietary Iron Overload Disease
Abnormal adrenal morphology, Increased circulating ferritin concentration, Hepatomegaly, Abnormal... ORPHA:139507
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ... OMIM:613327
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Impaired sensitivity... ORPHA:90673
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Fever, Hepatosplenomegaly OMIM:608898
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Fever, Weight loss, Re... ORPHA:2126
Meningococcal Meningitis
Hypothermia, Elevated circulating C-reactive protein concentration, Skin rash, Fever, Increased c... ORPHA:33475
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Increased circulatin... ORPHA:226316
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:608594
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomegaly, Hyp... ORPHA:20
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Sepsis In Premature Infants
Decreased liver function, Hypothermia, Jaundice, Hepatomegaly, Elevated circulating C-reactive pr... ORPHA:90051
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:269700
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Panniculitis, Elevated circulating hepatic transaminase conce... OMIM:617591
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Atopic dermatitis, Recurrent fever, Splenomegaly, Increased c... OMIM:620603
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... ORPHA:412
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia, Hypoglycemia, Increased blood urea nitrogen, Rhinitis, Insulin res... ORPHA:230
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Periportal fibrosis, Necrotizing ent... OMIM:201475
N-Acetylglutamate Synthase Deficiency
Hypothermia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Failure to thrive, Low plasma ci... OMIM:237310
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Arthralgia/arthriti... ORPHA:411593
Congenital Enterovirus Infection
Myocarditis, Hypothermia, Skin rash, Cholestasis, Fever, Hyperammonemia, Hypoalbuminemia, Hepatit... ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Hyperglycinemia, Decreased activity of mitochondrial complex IV OMIM:619063
Spontaneous Periodic Hypothermia
Skin rash, Hypothermia ORPHA:29822
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoket... ORPHA:228305
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Inappropriate antidiuretic hormo... ORPHA:226307
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Decrea... ORPHA:247585
H Syndrome
Hypertriglyceridemia, Delayed puberty, Azoospermia, Camptodactyly, Chronic rhinitis, Bronchiectas... ORPHA:168569
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration... ORPHA:444490
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Hypothermia, Inguinal hernia OMIM:614498
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... OMIM:203800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Panniculitis, Fever, Splenomegaly, Increased circulating ferritin concentra... OMIM:618398
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Elbow flexion contracture, Fever, Obesity, Hi... OMIM:618493
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Primary Erythromelalgia
Hypothermia ORPHA:90026
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98855
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased activity of mitochondrial complex I, Cholestasis, Prolonged neonatal jaundice, Acute he... OMIM:256810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:608836
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... OMIM:610717
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Decreased liver function, Cholestatic liver disease, Jaundice, Elevated cir... ORPHA:540
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Menkes Disease
Hypothermia, Decreased circulating ceruloplasmin concentration OMIM:309400
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98853
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevated c... OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Decreased activity of mitochondrial complex I, Macrovesicular hepatic steatosi... OMIM:618234
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypothermia, Elevated circulating creatine kinase concentration, Chole... OMIM:618775
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis, Decreased activity of mitochondri... ORPHA:70472
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Elevat... OMIM:256040
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Leptin Deficiency Or Dysfunction
Obesity, Recurrent pneumonia, Decreased serum leptin, Hypogonadism OMIM:614962
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Hypoketotic hypoglycemia,... OMIM:231530
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hypophosphatemic rickets, Hyperinsulinemia, Ele... ORPHA:263455
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent sinusitis, Splenomegaly, Bronchiectasis OMIM:620282
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia, Abnormality of the thyroid gland OMIM:182290
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatic steatosis, Hepatomegaly, Hypoketotic hypoglycemia, Hyp... ORPHA:228308
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Hypergonadotr... ORPHA:352447
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty... OMIM:615812
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... ORPHA:98908
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism, Patent ductus arteriosus OMIM:615996
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration, Inc... OMIM:223360
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Minimal change glomerulonephritis... ORPHA:567548
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Hyperinsulinemia,... OMIM:176270
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated circulating hepat... ORPHA:369840
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypothermia, Jaundice, Hyperhomocystinemia, Stomatitis, Elevated circulat... ORPHA:79282
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Adrenal insuff... OMIM:617575
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Hypothermia, In... OMIM:218700
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Electron transfer flavoprotein-ubiquinone ox... OMIM:231680
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Recurrent otitis media, Eczematoid dermatitis, Fever, Enterocolitis, Hepato... OMIM:619802
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia... OMIM:614300
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Insulin r... OMIM:614662
Alexander Disease
Hypothermia, Hypothyroidism, Failure to thrive, Precocious puberty, Diabetes mellitus, Infectious... ORPHA:58
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:619518
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Diabetes mellitus, Prima... OMIM:615830
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Delayed puberty, Hepatocellular adenoma, Hyperlipidemia, Hepat... ORPHA:79259
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Chronic otitis media, Hypothyroidism, Precocious puberty, ... ORPHA:819
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Marburg Hemorrhagic Fever
Hypothermia, Elevated circulating hepatic transaminase concentration, Jaundice, Hypokalemia, Panc... ORPHA:99826
Barth Syndrome
Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio, Abnormal mitochondrial morphology OMIM:302060
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Multiple lipomas, Hepatic steatosis, Hurthle cell thyroid adenoma ORPHA:210548
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypothermia, Elevated circulating hepatic transaminase concentration, Hyperuricemia... ORPHA:94093
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Diabetes mellitu... ORPHA:90041
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Perlman Syndrome
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczematoid dermatitis, Cholelithiasis, Hepatic failure OMIM:177000
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Recurrent otitis media, Precocious puberty, Obesity, Hyperc... ORPHA:254531
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Mitochondrial swelling, Arthritis ORPHA:397744
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79322
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hypothermia, Gastritis, Hypocalcemia, Cyanosis ORPHA:31826
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ele... OMIM:212138
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Hypoplasia of the thymus, Fever, Hypoplastic spleen, Increased circulating ... OMIM:619313
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Inguinal hernia, Biliary tract abnormality, Obesity, Ty... ORPHA:3191
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Menkes Disease
Hypothermia, Inguinal hernia, Prolonged neonatal jaundice, Osteomyelitis, Umbilical hernia, Atypi... ORPHA:565
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:614582
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hypothyroidism, Precocious puberty, Obesity, Arthrogryposis multiplex congenita, ... ORPHA:254346
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Osteoarthritis, Abno... ORPHA:77296
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex I, Hyperammonemia, ... OMIM:616672
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Failure to thrive, Disproportio... OMIM:236200
Werner Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... OMIM:277700
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Cyanosis OMIM:610773
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Chronic otitis media, Osteomyelitis OMIM:618010
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Hyperprolinemia, Hyperalaninemia OMIM:615918
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Esophagitis, Hepatosplenome... ORPHA:541423
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Hepatomegaly, Hyperalaninemia, Fever, Failure to thrive, Low plasma citrulline, Hepa... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial complex I, Ch... OMIM:614924
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous... OMIM:248370
Aromatase Deficiency
Tall stature, Hyperlipidemia, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II... ORPHA:91
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:602541
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Elevated circulati... OMIM:615486
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Tenorio Syndrome
Recurrent aphthous stomatitis, Hypoinsulinemia, Recurrent pneumonia, Hypoglycemia, Keratoconjunct... OMIM:616260
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Impaired se... OMIM:614450
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Portal hypertension, Hypot... ORPHA:79319
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperglycemia, Hyperlipidemia OMIM:604484
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... ORPHA:470
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis, Decrea... OMIM:611126
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Decreased liver function, Elevated ... ORPHA:275761
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Precocious puberty, Hyperglyc... OMIM:262190
Atypical Werner Syndrome
Hypertriglyceridemia, Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Generaliz... ORPHA:79474
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Sarcoidosis
Decreased liver function, Fever, Erythema nodosum, Maculopapular exanthema, Diabetes insipidus, P... ORPHA:797
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex I, Decreased activity of m... OMIM:500013
Fumarase Deficiency
Intrahepatic cholestasis, Hyperbilirubinemia, Necrotizing enterocolitis, Reduced subcutaneous adi... OMIM:606812
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Chilbl... OMIM:619487
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Mitochondrial swelling, Decreased activity of mitochondrial complex I, Hyperal... OMIM:618250
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I OMIM:615578
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Failure to thrive, Acute hepatic steatosis OMIM:210200
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevat... ORPHA:157
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Ventral hernia, Inguinal hernia, Periodontitis, Widened atrophic scar, Umbi... ORPHA:536532
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive OMIM:615863
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Recurrent otitis media, Truncal obesity, Precocious puberty... ORPHA:96184
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Familial Multiple Lipomatosis
Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance ORPHA:199276
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Colitis, Congenital hypothyroidism ORPHA:88643
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv... OMIM:616263
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Xp21 Deletion Syndrome
Hypertriglyceridemia, Recurrent otitis media, Elevated circulating creatine kinase concentration,... ORPHA:261476
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Elevated circulating C-reactive protein concentrati... OMIM:619573
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Failure to thrive, Hypoalbum... OMIM:602579
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Feve... ORPHA:158048
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, H... OMIM:124000
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Hepatic steatosis, Increased circulating copper concentration, Cirr... ORPHA:209919
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H... OMIM:617156
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Hypothermia, Flexion contracture, Temperature instability ORPHA:99027
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Adrenocortical hypoplasia, Hypogly... OMIM:307030
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Elevated circulating creatine kinase concentration, Obesity, Achilles tendon con... OMIM:615418
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol... ORPHA:71
Bloom Syndrome
Azoospermia, Malar rash, Type II diabetes mellitus, Elevated hemoglobin A1c, Bronchiectasis, Hepa... OMIM:210900
Immunodeficiency 40
Chronic oral candidiasis, Hepatomegaly, Macrovesicular hepatic steatosis, Recurrent otitis media,... OMIM:616433
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Generalized lipodystrophy, Elevated circulating hepatic transaminase concen... OMIM:619127
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Occipital Horn Syndrome
Scarring, Hypothermia, Jaundice, Inguinal hernia, Cholestasis, Esophagitis, Femoral hernia, Atypi... ORPHA:198
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hyp... OMIM:618641
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c... ORPHA:14
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, H... OMIM:277900
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... ORPHA:785
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Jaundice, Elevated circulating hepatic transamina... ORPHA:167
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Hypophosphatemia, Splenomeg... ORPHA:699
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemia, Cholestasis, Chronic hepatic failure,... ORPHA:746
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reacti... ORPHA:247353
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circu... OMIM:300972
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Arthritis, Skin rash, Chilblains, Atopic dermatitis, Hepatitis, Hypothyroidism, Fev... OMIM:615846
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, I... ORPHA:110
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Fever, Hepatic steatosis, Decreased response to growth hormone... ORPHA:3455
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Recurrent pneumonia, Hepatic steatosis, Flexion contracture OMIM:616271
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi... OMIM:618183
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... ORPHA:445038
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Recurrent otitis media ORPHA:589905
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferas... OMIM:610198
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Decreased muscle glycogen content ORPHA:263297
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Failure to thrive, Increased serum leptin, Cholecystitis ORPHA:778
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hyperlipidemia, Fever, Splenomegaly ORPHA:79477
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:93111
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Nephritis, Recurrent pneumonia, Splenomegaly, Fle... OMIM:617303
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Precocious puberty, Obesity, Hypercalcemia, Patent duct... ORPHA:369837
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability OMIM:608643
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he... ORPHA:66634
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Abnormality of the endocrine system, Aspiration pneumonia, Hypothyroidism, Precociou... ORPHA:438213
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism OMIM:619273
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Hypokalemia, Fa... ORPHA:769
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232200
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Abnormal circulating thyroglobulin concentration, Pi... ORPHA:99832
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparathyroidism, Obesity, ... OMIM:603233
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Sotos Syndrome
Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundi... OMIM:117550
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent otitis media, In... OMIM:619525
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Increased body weight, Temperature instability, Centra... ORPHA:398069
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Hypokalemia, Fasting hypoglycemia, Decreased body weight, Increas... ORPHA:508
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Impaired glucose tolerance, Obesity, Pituitary adenoma, Increased circulating ACTH l... OMIM:219090
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia, Corneal scarring, Unexplained fevers, Recurrent fever, Recurrent aspiration pneumoni... ORPHA:642
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia, Small for gestational age OMIM:256300
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Cushing Disease
Recurrent cutaneous fungal infections, Acne, Increased body weight, Increased urinary cortisol le... ORPHA:96253
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232220
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypotriglyceridemia, Micro... ORPHA:404454
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Failure to th... OMIM:614098
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Knee flexion contracture, Microvesicular hepa... OMIM:300868
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Hyperlipidemia, Elevated circulating creatine kinase concentration, I... ORPHA:565612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophagitis, Elevated circ... OMIM:615356
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Increased intramyocellular... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Digeorge Syndrome
Recurrent otitis media, Acne, Inguinal hernia, Cholelithiasis, Hypocalcemia, Seborrheic dermatiti... OMIM:188400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubi... OMIM:619475
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Increased serum testosterone level, Hypoplasia of the thymus, ... OMIM:264090
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Stomatitis, Hepa... OMIM:232240
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hyper... OMIM:220111
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Recurrent otitis media, Eczematoid dermatitis... OMIM:270400
Ogden Syndrome
Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, Recurrent otitis ... OMIM:300855
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Minimal change glomerulonephritis, Hyperlipidemi... ORPHA:1830
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hypoplasia of the ovary, Flexion contracture, Abdominal obesity, Hepatic steatosis OMIM:619321
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Small pituitary gland, Thyroid hypoplasia, Cholestasis, Hepatic steatosis, ... OMIM:619503
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Failure to thriv... OMIM:618278
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
1P36 Deletion Syndrome
Annular pancreas, Hypothyroidism, Failure to thrive, Obesity, Camptodactyly of finger, Abnormalit... ORPHA:1606
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Fever, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Hypergonadotropic... OMIM:241080
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Eczematoid dermatitis ORPHA:64745
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis, Patent ductus arteriosus OMIM:619934
Carney Complex
Tall stature, Thyroid carcinoma, Increased circulating insulin-like growth factor 1 concentration... ORPHA:1359
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Patent ductus a... OMIM:620185
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Arima Syndrome
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:243910
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Fabry Disease
Abnormal circulating lipid concentration, Delayed puberty, Diabetes insipidus, Arthritis, Hyperli... ORPHA:324
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Hellp Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter