Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
NAD(P)H dehydrogenase, quinone 1
Synonyms:
NMO1,  QR1,  Dia4,  Nmor1,  NQO1,  Ox-1,  NAD(P)H dehydrogenase (quinone),  Ox1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Nqo1 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 Nqo1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol c... OMIM:615703
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Lip... OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hypocalcemia,... OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr... OMIM:615238
Pilomatrixoma
Pilomatrixoma OMIM:132600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Increased glucagon level OMIM:619290
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:618620
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder OMIM:254700
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Adipose t... ORPHA:528
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Lipodystrophy, Loss of subcutaneous adipose tissue in limb... OMIM:615381
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hyperuric... ORPHA:79083
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Gcgr-Related Hyperglucagonemia
Glucagonoma, Increased glucagon level ORPHA:438274
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Hype... ORPHA:2348
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Abnormal circulating leucine concentration, Hyperammonemia, Hypogly... ORPHA:6
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Pilomatrixoma
Neoplasm of head and neck, Pilomatrixoma ORPHA:91414
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hypophosphatemia, Fasting hypoglycemia... ORPHA:2088
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Diarrhea 13
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, ... OMIM:617872
Cholesteryl Ester Storage Disease
Adrenal calcification, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Obesity, Increased LDL cholesterol concentr... ORPHA:412
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Elevated circulating creatine kinase con... OMIM:613327
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce... OMIM:617575
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hyperlipidemia, Decreased bod... ORPHA:444490
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hyperlipidemia, Failure to thrive, Hypoglycemia ORPHA:369
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Incre... ORPHA:79237
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los... ORPHA:3163
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... ORPHA:94086
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Increased body weight... ORPHA:79240
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... OMIM:613986
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Reduced subcutaneous adipose tissue, ... OMIM:608594
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98855
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased bo... ORPHA:264580
Aromatase Deficiency
Insulin resistance, Obesity, Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Hyperg... ORPHA:91
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypoalbuminemia, Hypothyroidism, Hypertriglyceridemia OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Decreased adipose tissue around ... OMIM:606721
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... ORPHA:247585
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diab... OMIM:269700
Hypobetalipoproteinemia, Familial, 1
Hypocholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Decreased HDL... OMIM:615558
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:261
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... ORPHA:902
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia OMIM:277700
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Cholesteryl Ester Storage Disease
Failure to thrive, Decreased HDL cholesterol concentration, Adrenal calcification, Adrenal insuff... OMIM:278000
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Decreased response ... OMIM:203800
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... OMIM:210740
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperli... OMIM:615947
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Smith-Magenis Syndrome
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty, Hyper... ORPHA:819
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Tr... OMIM:616541
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:650
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Decreased HDL cholesterol concentration, Decreased respons... OMIM:176270
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lipodystrophy, Hypertriglyceridemia, Flexion contracture, Panniculitis OMIM:617591
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
H Syndrome
Hypogonadism, Hernia, Lipodystrophy, Delayed puberty, Hypertriglyceridemia, Camptodactyly, Diabet... ORPHA:168569
Gaisböck Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... ORPHA:90041
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Whipple Disease
Insulin resistance, Cachexia, Hypothyroidism, Hyponatremia ORPHA:3452
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... OMIM:620189
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Hypertriglyceridemia, Hyperglycer... OMIM:307030
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia ORPHA:156
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Failure to thrive, Decreased respon... ORPHA:96182
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:603553
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Graves disease,... ORPHA:358
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Neonatal hyp... OMIM:619418
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypothyroidism, Hype... ORPHA:79259
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly... ORPHA:536532
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abn... ORPHA:79474
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Camptodactyly ... OMIM:256040
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Bardet-Biedl Syndrome 1
Insulin resistance, Hypogonadism, Obesity, Nephrogenic diabetes insipidus, Truncal obesity, Abdom... OMIM:209900
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... ORPHA:261476
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulat... OMIM:617049
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Diabetes mel... OMIM:616026
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased... OMIM:131100
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age OMIM:256300
Lysosomal Acid Lipase Deficiency
Failure to thrive, Adrenal calcification, Xanthelasma, Primary adrenal insufficiency, Hyponatremi... ORPHA:275761
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... ORPHA:125
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine... OMIM:255120
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Pineal cyst, Diabetes mellitus, Hypertriglyce... ORPHA:98908
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Lysinuric Protein Intolerance
Failure to thrive, Increased circulating ferritin concentration, Decreased response to growth hor... ORPHA:470
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Squamous cell carcinoma of the skin, Myelodysplasia, Portal hypertension OMIM:620365
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty, Fasting hypoglycemia OMIM:232200
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Pulmonary carcinoid tumor, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Mandibuloacral Dysplasia Progeroid Syndrome
Generalized lipodystrophy, Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1c, Fl... OMIM:619127
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:157
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypertriglyceridemia, Hypoparathyroidism, Hypercalcemia ORPHA:369837
Bardet-Biedl Syndrome
Insulin resistance, Decreased HDL cholesterol concentration, Hypogonadism, Obesity, Impaired fast... ORPHA:110
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Hyperlipidemia ORPHA:1414
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma OMIM:278720
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Disabling Pansclerotic Morphea Of Childhood
Squamous cell carcinoma of the skin OMIM:620443
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:228308
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin... ORPHA:3455
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hyperlipidemia, Hypothyroidism, Arthrogryposis multiplex congenita ORPHA:254346
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232220
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Increased LDL ... ORPHA:77293
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypoplasia o... OMIM:264090
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Small for gestational age, Hy... OMIM:619573
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma OMIM:610651
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232240
Alagille Syndrome 1
Hypercholesterolemia, Papillary thyroid carcinoma, Failure to thrive, Hypertriglyceridemia OMIM:118450
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Hyperlipidemia, Small for gestational age, Failure to thrive ORPHA:1830
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration ORPHA:565612
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin OMIM:620040
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Small for gestational age, Conjuga... ORPHA:567983
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Pmm2-Cdg
Insulin resistance, Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:79318
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin ORPHA:220295
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Neoplasm, Spinal cord tumor, Pilomatrixoma, Meningioma ORPHA:353281
Tetrasomy 9P
Jaundice, Pilomatrixoma ORPHA:3310
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Myelodysplasia OMIM:127550
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pilomatrixoma, Meningioma ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pilomatrixoma, Meningioma ORPHA:353277
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79430
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin ORPHA:79396
Fabry Disease
Abnormal circulating lipid concentration, Delayed puberty, Hyperlipidemia, Diabetes insipidus ORPHA:324
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Nqo1

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 Nqo1.

No publications found that use IMPC mice or data for Nqo1.

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
Nqo1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nqo1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nqo1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Nqo1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, 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