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Gene: Lpl MGI:96820

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

lipoprotein lipase

Synonyms:

O 1-4-5

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Lpl 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.

Human diseases associated with Lpl (2 diseases)
Human diseases predicted to be associated with Lpl (590 diseases)

The table below shows human diseases associated to Lpl by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hyperlipidemia, Familial Combined, 3		Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hyperlipoproteinemia, Type I		Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600

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

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased HDL cholesterol concentr...	OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator...	OMIM:607616
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam...	ORPHA:488650
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Prominent superficial veins, Hypertri...	OMIM:608600
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hypertriglycer...	ORPHA:280356
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Miscarriage, Lipodystrophy, Skeletal muscle hypertrophy, Hepat...	OMIM:613877
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Recurrent lower respirat...	OMIM:620282
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia	ORPHA:364
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Splenomegaly, Increased cir...	OMIM:300635
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim...	ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia	ORPHA:329249
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Prominent superfici...	OMIM:151660
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos...	OMIM:278000
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Prominent superfici...	OMIM:604367
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Focal Segmental Glomerulosclerosis 1	Pleural effusion, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C...	ORPHA:369
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Elevated circulating C...	OMIM:620321
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Adipose tissue lo...	ORPHA:528
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:98855
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert...	ORPHA:79083
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Abnormal pulmonary in...	OMIM:619013
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Congenital Analbuminemia	Miscarriage, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Rec...	ORPHA:86816
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration, Pulmonary fibrosis	ORPHA:254361
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:98863
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Elevated circulating C-reactive protein concentratio...	ORPHA:2902
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Recurrent upper respiratory tract ...	ORPHA:263501
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, E...	ORPHA:98853
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Respiratory tract infection, Peritonitis, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Pallor	ORPHA:46532
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Hypoglycinemia, Hyposerinemia	OMIM:610992
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Pulmonary infiltrates	ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, EMG...	ORPHA:71
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis	ORPHA:79085
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating...	OMIM:615980
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Perching Syndrome	Joint contracture, Cyanosis, Camptodactyly	OMIM:617055
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Abnormality of iron homeostasis	ORPHA:75563
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hepatomegaly, Hyper...	ORPHA:280365
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Progeroid ...	ORPHA:79086
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Bronchopulmonary Dysplasia	Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration	ORPHA:70589
Breath-Holding Spells	Cyanosis, Pallor	OMIM:607578
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Emphysema, Premature graying of hair, Abnormal intrahepatic bi...	ORPHA:363618
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Asbestos Intoxication	Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp...	ORPHA:2302
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva...	ORPHA:79240
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneu...	ORPHA:2357
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Pa...	OMIM:613561
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper...	ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper...	ORPHA:276556
Meconium Aspiration Syndrome	Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra...	ORPHA:70588
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp...	ORPHA:79237
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Hyperlipidemia	ORPHA:2089
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Pallor	ORPHA:90064
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,...	OMIM:610978
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva...	ORPHA:264580
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero...	OMIM:618156
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, Decreased circul...	OMIM:300972
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens...	ORPHA:98913
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Abnormality of iron homeostasis, Chole...	ORPHA:848
Hyperinsulinism Due To Hnf1A Deficiency	Decreased circulating free fatty acid level, Hepatomegaly, Pallor, Increased C-peptide level	ORPHA:324575
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Surfactant Metabolism Dysfunction, Pulmonary, 3	Death in infancy, Cyanosis, Crazy paving pattern, Nonspecific interstitial pneumonia, Nodular pat...	OMIM:610921
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc...	OMIM:613490
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Pallor, Cho...	OMIM:266200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Reduced subcutaneous adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissu...	OMIM:248370
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, Death in infancy	OMIM:300219
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Pallor	ORPHA:71518
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Infant Acute Respiratory Distress Syndrome	Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema	ORPHA:70587
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Splen...	OMIM:617591
Summitt Syndrome	Obesity	OMIM:272350
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level	ORPHA:276580
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Pneumothorax, Hypo...	ORPHA:2257
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Myopat...	ORPHA:98907
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Hypoalbuminemia, Pallor	ORPHA:507
Optic Atrophy 1	Pallor	OMIM:165500
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Hand mus...	ORPHA:98908
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Cyanosis	ORPHA:91130
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hypertriglycer...	OMIM:606721
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis	ORPHA:2901
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia	ORPHA:3348
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A...	ORPHA:231222
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ...	ORPHA:244
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor	ORPHA:209981
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Werner Syndrome	Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Progeroid facial appe...	OMIM:277700
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Death in childhood	OMIM:246450
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:608594
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Hypertriglyceridemia, Splenomegaly, Increased circulating fer...	OMIM:619802
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Pa...	OMIM:194380
Encephalopathy, Ethylmalonic	Death in infancy, Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Petechiae	OMIM:602473
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Hepatomegaly, Hypocholesterolemia	OMIM:618810
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Low plasma citrulline, Elevated circulating alanine aminotransferase conc...	OMIM:261680
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respiratory tract infections, Ty...	OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc...	OMIM:265120
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Microvesicular he...	OMIM:619418
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Death in infancy, Hypertriglyceridemia, Recurrent upper respiratory tract infection...	OMIM:618183
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Anemia, Congenital Dyserythropoietic, Type Ib	Splenomegaly, Hepatomegaly, Jaundice, Pallor	OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ...	ORPHA:31150
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Hyposerinemia, Hyper...	ORPHA:284417
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:269700
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Pallor	OMIM:606353
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Elevated circulating acylcarnitine concent...	ORPHA:159
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Isolated Thyroid-Stimulating Hormone Deficiency	Dry skin, Macroglossia, Umbilical hernia, Prolonged neonatal jaundice, Hypercholesterolemia, Abno...	ORPHA:90674
Hemoglobin D Disease	Splenomegaly, Pallor	ORPHA:90039
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Pancr...	ORPHA:263455
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Recurrent respiratory infections, Microvesicular hepatic steatosis, Atelectasis, He...	OMIM:618278
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Increased circulating ferritin concentration, Ragged-red muscle fibers, General...	OMIM:600462
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Cryptogenic Organizing Pneumonia	Hypoxemia, Pneumothorax, Cyanosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Ground-glass opacification, Atelectasis, Bronchiectasis, Cholestasis, Abnormal pulm...	OMIM:620233
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o...	ORPHA:333
Congenital Heart Block	Pleural effusion, Cyanosis, Pallor	ORPHA:60041
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly,...	ORPHA:99931
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Pleural effusion, Cyanosis	ORPHA:2414
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Pallor, Increased total bilirubin	ORPHA:90037
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive...	OMIM:256040
Evans Syndrome	Jaundice, Bruising susceptibility, Pallor, Petechiae	ORPHA:1959
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Large for gestational age, Increased circulating free fatty acid level	ORPHA:293964
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen...	ORPHA:77293
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Redundant skin, Congenital diaphragmatic hernia	ORPHA:171719
Non-Functioning Paraganglioma	Pallor, Hypercalcemia, Flushing	ORPHA:94080
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Pallor, Bruising susceptibility	ORPHA:3226
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue	ORPHA:71526
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, S...	ORPHA:231226
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Dec...	OMIM:300908
Surfactant Metabolism Dysfunction, Pulmonary, 2	Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Intralobular septal thick...	OMIM:610913
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ...	ORPHA:261476
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Hyperkalemia	OMIM:240200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Pallor, Hepatosplenomegaly	OMIM:611590
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Recurrent pharyngitis, Bronchiectasis, Hepatosplenomegaly, F...	ORPHA:168569
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Intraalveolar phospho...	ORPHA:747
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Myopathy, Mitochondrial, And Ataxia	Elevated circulating creatine kinase concentration, Multiple lipomas, Distal amyotrophy, Pallor, ...	OMIM:617675
Buerger Disease	Acrocyanosis, Skin ulcer	ORPHA:36258
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Acrocyanosis, Macula...	ORPHA:49566
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Hyperbilirubinemia, Cholelithiasis	ORPHA:822
Aapoaiv Amyloidosis	Hyperlipidemia, Abnormal lung morphology, Elevated circulating creatinine concentration	ORPHA:439232
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia, Cutis laxa	OMIM:614100
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia...	ORPHA:824
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Elevated circulating C-reactive protein concentration, Splenomegaly, Jaun...	ORPHA:90051
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Splenomegal...	ORPHA:231214
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ...	ORPHA:300298
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate...	OMIM:617253
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Increased serum iron, Pallor, Increased total iron binding capacit...	ORPHA:98870
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Intraalveolar phospholipid a...	OMIM:610910
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce...	OMIM:232200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pallor	OMIM:613839
Gaisböck Syndrome	Plethora, Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level...	ORPHA:90041
Rheumatic Fever	Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Aplasia/Hypoplasia of the abdominal ...	ORPHA:3099
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X...	OMIM:232220
Dravet Syndrome	Cyanotic episode, Pallor	ORPHA:33069
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Prominent superficial vei...	OMIM:608612
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Death in infancy, Abnormal subcut...	OMIM:212065
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Pallor, Hyperalaninemia, Hepatic stea...	ORPHA:348
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Cyanosis, Bronchitis, Abnormal circulating calcium concentration, Respiratory tract...	ORPHA:60025
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Atelectasis, Fulminant hepatitis, Elevated circulating C-reactive ...	ORPHA:319213
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary inters...	OMIM:612387
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Increased total bilirubin	ORPHA:90036
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death...	OMIM:613177
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age	OMIM:617119
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Respiratory tract infection, Pleural effusion, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi...	OMIM:557000
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tract infections,...	OMIM:232240
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Splenomegaly, Atelectasis, Periportal fibrosis, Pulmonary hypoplasia, Neonatal death	OMIM:269860
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis	ORPHA:2400
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration	OMIM:222765
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc...	OMIM:118450
Tetrasomy 5P	Recurrent respiratory infections, Pericallosal lipoma, Redundant neck skin, Cyanosis, Aplasia/Hyp...	ORPHA:3309
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Dorsocervical fat pad, Increased ...	OMIM:615830
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections	ORPHA:2314
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Increased hepatic gly...	ORPHA:79259
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Redundant skin, Pro...	ORPHA:536532
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis, Pulmonary edema	ORPHA:330012
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased body weight	OMIM:614450
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased body weight, Abdominal obesity	OMIM:615954
Hsd10 Disease, Infantile Type	Cyanosis, Hyperammonemia	ORPHA:391428
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Pallor	ORPHA:163596
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Highly elevated creatine kinase, Recurrent lower respiratory tract infections, Atelectasis	ORPHA:258
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre...	ORPHA:189427
Chédiak-Higashi Syndrome	Hyponatremia, Recurrent respiratory infections, Elevated hepatic transaminase, Hypertriglyceridem...	ORPHA:167
Eosinophilic Fasciitis	Myositis, Fasciitis, Cellulitis, Muscular edema, Acrocyanosis	ORPHA:3165
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Atypical Werner Syndrome	Skeletal muscle atrophy, Prominent superficial veins, Hypertriglyceridemia, Prematurely aged appe...	ORPHA:79474
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Atelectasis, Recurrent pneumonia, Air bronchogram, Ple...	OMIM:306400
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo...	ORPHA:199241
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscl...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscl...	ORPHA:98914
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Mednik Syndrome	Death in infancy, Erythema, Cholestasis, Death in childhood, Hepatic fibrosis, Cirrhosis, Increas...	OMIM:609313
Congenital Fibrinogen Deficiency	Cyanosis, Splenic rupture, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous he...	ORPHA:335
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased L...	ORPHA:14
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Pallor	ORPHA:56425
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Proge...	OMIM:619127
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ...	ORPHA:20
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Cyanosis, Anomalous pulmonary venous return, Hypoxemia, Right ventricular hypertrophy	ORPHA:860
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Fucosidosis	Hepatomegaly, Decreased muscle mass, Lipoatrophy, Abnormality of the gallbladder, Acrocyanosis, V...	ORPHA:349
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	OMIM:619573
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Recurrent respiratory infections, Death in infancy, Hypoammonemia, Atelectasis, Hyp...	ORPHA:534
Plummer-Vinson Syndrome	Decreased circulating ferritin concentration, Pallor	ORPHA:54028
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmonary infiltrates, Chylothorax, ...	ORPHA:538
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Hepatomegaly, Pallor	ORPHA:75564
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Respiratory tract infection, At...	ORPHA:365
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Elevated hepatic transaminase, Redundant skin, Re...	ORPHA:79324
Myelofibrosis	Splenomegaly, Pallor, Purpura	OMIM:254450
Zygomycosis	Atelectasis, Peritonitis, Pneumothorax, Hepatitis, Pulmonary infiltrates, Acute infectious pneumo...	ORPHA:73263
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Myopathy, Muscular dystrophy	OMIM:307030
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pallor, Skeletal muscle atrophy	ORPHA:90045
Waldenström Macroglobulinemia	Hepatomegaly, Cutis marmorata, Splenomegaly, Urticaria, Pallor, Pleural effusion, Purpura	ORPHA:33226
Elliptocytosis 1	Splenomegaly, Jaundice, Pallor	OMIM:611804
Beta-Ketothiolase Deficiency	Hepatomegaly, Pallor, Hyperuricemia, Hyperammonemia	ORPHA:134
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Intrahepatic cholestasis, Pallor, Hyperbilirubinemia, Hepati...	OMIM:606812
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Hypocalcemia	ORPHA:3426
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Jaundice, Pallor	ORPHA:90033
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, P...	ORPHA:565612
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Whim Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections...	ORPHA:51636
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Decreased muscle mass, Abnor...	ORPHA:357074
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Hypercalcemia, Flushing	ORPHA:276621
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia, Pancreatitis	ORPHA:1830
Pulmonary Arteriovenous Malformation	Cyanosis, Liver abscess, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, Hemoth...	ORPHA:2038
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Obesity	OMIM:600955
Birt-Hogg-Dubé Syndrome	Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Pallor	ORPHA:95512
American Trypanosomiasis	Splenomegaly, Hepatomegaly, Pallor	ORPHA:3386
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Elevated circulating creatinine concentratio...	OMIM:617478
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Skeletal muscle atrophy, Cutis marmorata, Cholangitis, Splenomegal...	ORPHA:3260
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Recurrent bronchitis	OMIM:604571
Letterer-Siwe Disease	Jaundice, Pallor, Hepatosplenomegaly	OMIM:246400
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Pallor, Recurrent upper and lowe...	ORPHA:331206
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces	ORPHA:536467
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Erythema, Prolonged neonatal jaundice,...	OMIM:225750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Abnormal lung lobation, Hypercalcemia	ORPHA:369837
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Pallor	ORPHA:95513
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis	ORPHA:2004
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi...	OMIM:619534
Pituitary Apoplexy	Hyponatremia, Increased circulating cortisol level, Pallor	ORPHA:95613
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Hypercalcemia, Proximal amyotrophy, Neoplasm of the lung, Ne...	ORPHA:653
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Death in infancy, Cyanosis, Skeletal muscle atrophy, Splenomegaly, Ragged-red muscl...	OMIM:252010
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Hypoxemia, Honeycomb l...	ORPHA:79127
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, P...	ORPHA:90363
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Anemic pa...	ORPHA:86839
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Cyanosis, Right ventricular hypertrophy	ORPHA:444013
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br...	OMIM:615067
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia	ORPHA:254534
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Death in infancy, Cyanosis, Hypokalemia, Death in childhood, Recurrent lower respir...	OMIM:618426
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Pulmonary artery stenosis, Hypocalc...	ORPHA:667
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Fanconi Renotubular Syndrome 5	Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma	OMIM:618913
Chiari Malformation Type Ii	Limb muscle weakness, Cyanosis	OMIM:207950
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger	OMIM:614407
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cyanosis, Anomalous pulmonary venous return, Hypoxemia, Right ventricular hypertrophy	ORPHA:555874
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Dry skin, Pallor	ORPHA:91355
Aromatase Deficiency	Hyperlipidemia, Hepatic steatosis	ORPHA:91
Congenital Tracheomalacia	Cyanosis, Pneumonia, Partial anomalous pulmonary venous return, Pneumothorax, Bronchiectasis, Rec...	ORPHA:95430
22Q11.2 Deletion Syndrome	Splenomegaly, Atelectasis, Abnormal lung lobation, Hypocalcemia, Cholelithiasis	ORPHA:567
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Hypercalcemia, Flushing	ORPHA:29072
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Meckel Syndrome 14	Pneumothorax, Cyanosis, Hepatic fibrosis, Pulmonary hypoplasia	OMIM:619879
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Hyperkalemia, Hypocalcemia, Pulmonary edema	ORPHA:31826
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent respiratory infections, Hyp...	OMIM:264090
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Pallor, Hemosiderin-laden macrophages in bronchoalve...	OMIM:233450
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology, Urtic...	ORPHA:183
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Pneumonia, Respiratory tract infection, Hyperkalemia, Pleural empyema, Hypocalcemia...	ORPHA:544482
Familial Dysautonomia	Hyponatremia, Recurrent respiratory infections, Abnormal peritoneum morphology, Abnormal pleura m...	ORPHA:1764
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor, Decreased serum iron	OMIM:616959
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters...	ORPHA:221
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Splenomegaly, Urticaria, Pallor, Flushing	ORPHA:98849
Esophageal Atresia	Omphalocele, Recurrent respiratory infections, Cyanosis, Bronchitis, Pallor, Pulmonary hypoplasia	ORPHA:1199
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight...	ORPHA:1501
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Skeletal muscle atrophy, Weakness of facial musculature, Abnormali...	ORPHA:273
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Choanal Atresia	Recurrent respiratory infections, Cyanosis	ORPHA:137914
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Pallor, Pulmonary edema	ORPHA:137675
Fabry Disease	Hyperlipidemia, Abnormal circulating lipid concentration, Emphysema	ORPHA:324
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Redundant skin, Congenital diaphragmatic herni...	OMIM:219100
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis, Elevated circulating creatinine concentrati...	OMIM:223900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Cyanosis, Hyperlipidemia, Recurrent upper respirator...	ORPHA:293987
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia, Pulm...	OMIM:616749
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor w...	OMIM:123700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Limb hypertonia	OMIM:619580
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Abnormal tendon mo...	ORPHA:391665
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Non-Functioning Pituitary Adenoma	Increased intraabdominal fat, Pallor	ORPHA:91349
Digeorge Syndrome	Splenomegaly, Atelectasis, Recurrent pneumonia, Hypocalcemia, Recurrent sinusitis, Cholelithiasis...	OMIM:188400
Tay-Sachs Disease	Pallor	OMIM:272800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Obesity	OMIM:609734
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Lipoatrophy, Ca...	ORPHA:3455
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Complete Atrioventricular Septal Defect	Hepatomegaly, Cyanosis, Recurrent pneumonia, Right ventricular hypertrophy	ORPHA:1329
Relapsing Polychondritis	Atelectasis, Hepatitis	ORPHA:728
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Palpable purpura, Cutis marmorata, P...	ORPHA:48435
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Degcags Syndrome	Hepatomegaly, Pneumonia, Hiatus hernia, Cholestasis, Hepatosplenomegaly, Premature graying of hai...	OMIM:619488
Aregenerative Anemia	Bruising susceptibility, Pallor	ORPHA:101096
Chand Syndrome	Atelectasis	ORPHA:1401
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Death in infancy, Splenomegaly, Abnormal lung lobation, Severe photosensitivity, Ch...	OMIM:270400
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Recurrent pneumoni...	ORPHA:980
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Macroglossia, Myopathy, Pleural effusion, Pulmonary edema	OMIM:261740
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Alternating Hemiplegia Of Childhood	Facial hypotonia, Pallor, Flushing	ORPHA:2131
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Bilateral trilobed lung, Hepatomegaly, Cyanosis, Asplenia, Biliary atresia, Abdomina...	OMIM:306955
Incontinentia Pigmenti	Scarring, Erythema, Pallor	OMIM:308300
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Bronchi...	ORPHA:1572
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Telangiectasia of the ...	OMIM:187300
Atrial Septal Defect, Ostium Primum Type	Left ventricular hypertrophy, Recurrent respiratory infections, Pulmonary artery dilatation, Cyan...	ORPHA:99106
Poems Syndrome	Pleural effusion, Acrocyanosis, Lipodystrophy	ORPHA:2905
Dubowitz Syndrome	Inguinal hernia, Hypocholesterolemia	OMIM:223370
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cutis marmorata, Lipoatroph...	ORPHA:51
Myasthenia Gravis	Myositis, Acrocyanosis, Hepatitis	ORPHA:589
Eisenmenger Syndrome	Hepatomegaly, Cyanosis, Elevated circulating C-reactive protein concentration, Aortopulmonary win...	ORPHA:97214
Myasthenic Syndrome, Congenital, 21, Presynaptic	Weakness of facial musculature, Cyanosis, Knee flexion contracture	OMIM:617239
Prolactinoma	Pallor	ORPHA:2965
Tarp Syndrome	Cyanosis, Pulmonary hypoplasia	ORPHA:2886
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Nail bed telangiectasi...	OMIM:600376
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Upper limb muscle weak...	ORPHA:892
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Fanconi Anemia, Complementation Group C	Flexion contracture, Bruising susceptibility, Anemic pallor	OMIM:227645
Congenital Tracheal Stenosis	Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o...	ORPHA:141127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:253280
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Pallor	ORPHA:91347
Insulinoma	Increased body weight	ORPHA:97279
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Hepatomegaly, Cyanosis, Pulmonary artery stenosis, Supracardiac...	ORPHA:99125
Criss-Cross Heart	Cyanosis	ORPHA:1461
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Acrocyanosis, Cutis marmorata	ORPHA:416
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Anemic pallor	OMIM:600901
Sotos Syndrome	Overgrowth, Increased body weight, Tall stature	OMIM:117550
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Anemic pallor	OMIM:227650
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Acrocyanosis, Cutis marmorata	OMIM:259900
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis	ORPHA:3427
Fanconi Anemia, Complementation Group D2	Annular pancreas, Bruising susceptibility, Anemic pallor	OMIM:227646
Unilateral Polymicrogyria	Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Classical Ehlers-Danlos Syndrome	Striae distensae, Inguinal hernia, Prematurely aged appearance, Poor wound healing, Hiatus hernia...	ORPHA:287
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Dermal translucency, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spont...	OMIM:130050
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dorsocervical fat pad, Portal ...	ORPHA:64
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ...	OMIM:610655
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Pneumonia	ORPHA:99103
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Absence of subcutaneous fat, Lack of skin elastici...	ORPHA:740
Diamond-Blackfan Anemia 1	Small thenar eminence, Pallor	OMIM:105650
Diamond-Blackfan Anemia	Pallor, Abnormality of the thenar eminence	ORPHA:124
Magel2-Related Prader-Willi-Like Syndrome	Failure to thrive, Flexion contracture, Increased body weight, Abdominal obesity	ORPHA:398069
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Inguinal hernia, Cyanosis	OMIM:212093
Aortic Arch Interruption	Left ventricular hypertrophy, Cyanosis, Aortopulmonary window	ORPHA:2299
Cushing Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:96253
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Pitt-Hopkins Syndrome	Acrocyanosis, Hiatus hernia	ORPHA:2896
Generalized Arterial Calcification Of Infancy	Cyanosis, Myocardial calcification, Hepatic calcification, Hypophosphatemic rickets, Pancreatic c...	ORPHA:51608
Coffin-Lowry Syndrome	Inguinal hernia, Cutis marmorata, Cutis laxa, Uterine prolapse, Acrocyanosis	OMIM:303600
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdominal wall musculature,...	ORPHA:285
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Hellp Syndrome	Increased body weight	ORPHA:244242
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Pulmonary arteriovenous malformation, Extrahepatic portal hypertension,...	ORPHA:2929
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation	OMIM:175050
Cushing Syndrome Due To Ectopic Acth Secretion	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:99889
Carney Complex	Dorsocervical fat pad, Increased body weight, Abdominal obesity, Increased circulating cortisol l...	ORPHA:1359

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 Lpl

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 Lpl.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
ULK1 prevents cardiac dysfunction in obesity through autophagy-meditated regulation of lipid metabolism.	Cardiovascular research (August 2017)	Lpl^{tm1c(KOMP)Wtsi} Lpl^{tm1a(KOMP)Wtsi}	28430962

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
Lpl^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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