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

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 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia 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
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Dyspnea, Recurrent respiratory infections, Decreased DLCO, Hypertrigl... OMIM:607616
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Hypercholesterolemia, Intrinsic hand muscle atrophy, Incr... ORPHA:488650
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, General... OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Prominent superfi... OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Reduced subcutaneous... ORPHA:280356
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Skeletal muscle atrophy, Decreased cir... OMIM:616828
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Myopathy, El... OMIM:610717
Acute Interstitial Pneumonia
Pulmonary infiltrates, Reticulonodular pattern on pulmonary HRCT, Nonproductive cough, Ground-gla... ORPHA:79126
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates, Increased alpha-globulin OMIM:235900
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Parenchymal consolidation, Restrictive ventila... ORPHA:2902
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Lipoatrophy, Skeletal muscle hypertrophy, Hypertriglyceridemia OMIM:613877
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Hepat... OMIM:613101
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Proximal muscle weakness in upper limbs, Hepatic steatosis, Hyperlipidemia, Loss o... ORPHA:435660
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease, Elevated circulating creatine kinase concentration OMIM:268040
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalit... OMIM:608423
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, He... ORPHA:435651
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Restrictive ventilatory defect, Hepatosplenomegaly, Cough, Elevated hepatic tr... OMIM:619013
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Prominent superficial veins, Hypercholester... OMIM:151660
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia ORPHA:364
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Recurrent respiratory i... OMIM:300635
Lysosomal Acid Lipase Deficiency
Hepatic failure, Death in infancy, Hypersplenism, Decreased HDL cholesterol concentration, Peripo... OMIM:278000
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Prominent superfic... OMIM:604367
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Reduced intraabdominal adipose tissue, Generalized lipodystrophy, Hepatomegaly... ORPHA:363400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c... OMIM:610978
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Elevated hepat... ORPHA:369
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Hepatomegaly, Elevated hepatic transaminas... OMIM:615381
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Prominent superficial veins, Hyperch... ORPHA:528
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Elevated circulating creatine kinase concentration, Exertional dyspnea, Atelectasi... ORPHA:254361
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Cirrhosis, Prominent veins on trunk, Abnormality of skeletal muscle fiber size... ORPHA:79083
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Increased i... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Abnormality of skeletal muscle fiber size, Lipoatro... ORPHA:2348
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Pulmonary embolism, ... ORPHA:567548
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Multiple joint contractures, ... ORPHA:536516
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly ORPHA:46532
Griscelli Syndrome Type 2
Pulmonary infiltrates, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79477
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Rhabdomyolysis, Cholestasis, Skeletal muscle atrophy, Hypercholesterolemia, Li... ORPHA:370
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hep... OMIM:615980
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Hypercholesterolemia, Contractures of the large jo... ORPHA:2457
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Miscarriage, Hypoalbuminemi... ORPHA:86816
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Minimal subcutaneous fat, Lipodystrophy, Hepatic steatosis, Proximal u... ORPHA:280365
Cog4-Cdg
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hypercholesterolemia, Fatal liv... ORPHA:263501
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly OMIM:615234
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, N... ORPHA:70587
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
X-Linked Sideroblastic Anemia
Pallor, Splenomegaly, Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Hepatomegaly, Increased level of gal... ORPHA:79237
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Splenomegaly, ... ORPHA:158057
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Abnormal circulating lipid concentration, Generalized lipo... ORPHA:79086
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Emphysema, Hypercholesterolemia, Lipoatrophy, Premature skin wrinkling... ORPHA:363618
Retinitis Pigmentosa 42
Pallor OMIM:612943
Cyanosis And Hepatic Disease
Cyanosis, Hepatitis OMIM:219400
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Cholesterol Pneumonia
Cyanosis, Death in infancy, Pneumonia OMIM:215030
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Airway obstruction, Hypoxemia, Reduce... ORPHA:1303
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Hypercholesterolemia, Limb-girdle muscle weakness, Splen... ORPHA:79240
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Respiratory tract i... ORPHA:244
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hyperga... ORPHA:247598
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Splenome... ORPHA:567983
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Increased circ... ORPHA:444490
Acute Lung Injury
Pulmonary infiltrates, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Hypoxemia, Tac... ORPHA:178320
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Retinitis Pigmentosa 60
Pallor OMIM:613983
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hepatomegaly, Pallor, Foc... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hepatomegaly, Pallor, Dif... ORPHA:276556
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Hypercholesterolemia, Splenomegaly, Hepa... ORPHA:264580
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Retinitis Pigmentosa 81
Pallor OMIM:617871
Laron Syndrome
Hypercholesterolemia ORPHA:633
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Gro... ORPHA:79127
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Elevated hepatic transaminase ORPHA:2089
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... ORPHA:158061
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Optic Atrophy 9
Pallor OMIM:616289
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Bruising susceptibility, Petechiae, Ecchymosis, Dec... ORPHA:540
Nephronophthisis-Like Nephropathy 2
Pulmonary infiltrates, Elevated circulating creatinine concentration, Cough, Bronchiectasis, Recu... OMIM:619468
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, EMG: myopathic abnormalities, Myopath... ORPHA:71
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Splenomegaly, Elevated circulating sitosterol con... OMIM:210250
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of the intrinsic hand muscles, Abnormality of the musculature of the upper lim... ORPHA:98913
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough,... ORPHA:2032
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Peripheral Cone Dystrophy
Pallor OMIM:609021
Beta-Thalassemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Pallor, S... ORPHA:848
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly ORPHA:156
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Decreased circulating free fatty acid level, Increased C-peptide level, Hepatomegaly ORPHA:324575
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Hepat... ORPHA:98907
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Neutral Lipid Storage Myopathy
Hepatic steatosis, Foot dorsiflexor weakness, Increased intramyocellular lipid droplets, Cholecys... ORPHA:98908
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Muscular dystrophy, Splenomegaly, Hepatome... OMIM:613327
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Tachypnea, Respiratory failure, Hepatomegal... OMIM:618278
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Myositis, Flexion contracture, Splenomegaly, Hepatomegaly, Panniculitis, Elevated ... OMIM:617591
Summitt Syndrome
Obesity OMIM:272350
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Cyanosis, Transient Neonatal
Cyanosis, Hepatomegaly, Jaundice OMIM:613977
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronch... OMIM:244400
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Respiratory failure requiring assisted ventilation, Restrictive ventilator... ORPHA:90060
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Increased C-peptide level, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Staphylococcal Necrotizing Pneumonia
Pulmonary infiltrates, Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Parench... ORPHA:36238
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Cutis marmorata, Recurrent pancreatitis, Spontaneous pneumothorax, Hypercholestero... OMIM:606721
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxemia, Bronc... ORPHA:1302
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... ORPHA:2088
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperprolinemia, Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, ... OMIM:619003
Leishmaniasis
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Pallor, Skin ulcer ORPHA:507
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hepatomegaly, Hyperuricemia, Death in childhood, Pallor, Hyperammonemia OMIM:246450
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Generalized muscular appearance from birth, Hepatic steatosis, Acute pancreatitis,... OMIM:608594
Optic Atrophy 1
Pallor OMIM:165500
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy ORPHA:91130
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalve... OMIM:612387
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Increased circulating ferritin concentration, Generalized limb muscle atrophy OMIM:600462
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging ORPHA:2901
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Ground-glass opacification, Intraalveolar ph... OMIM:265120
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Generalized muscular appearance from birth, Hepatic steatosis, Acute pancreatitis,... OMIM:269700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Encephalopathy, Ethylmalonic
Acrocyanosis, Death in infancy, Petechiae, Elevated circulating butyrylcarnitine concentration OMIM:602473
Cutis Laxa-Marfanoid Syndrome
Emphysema, Redundant skin, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly, Jaundice OMIM:613839
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Cirrhosis, Decreased liver function... ORPHA:231222
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hyperlipidemia, Respiratory failure requiring assisted ventilati... ORPHA:77293
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Irida Syndrome
Pallor, Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:194380
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infections, Desquamat... OMIM:263000
Alstrom Syndrome
Recurrent pneumonia, Hepatic steatosis, Asthma, Hepatomegaly, Hyperuricemia, Elevated hepatic tra... OMIM:203800
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Retinitis Pigmentosa 70
Pallor OMIM:615922
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Macroglossia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Umb... ORPHA:90674
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Epistaxis, Hyperuricemia ORPHA:35909
Cystic Echinococcosis
Abnormality of the pancreas, Biliary tract obstruction, Asthma, Abnormal subpleural morphology, H... ORPHA:400
Farber Disease
Hepatic failure, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Intrahepatic c... ORPHA:333
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:615631
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Hepatomegaly, Increased hepatic glyc... ORPHA:263455
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Cirrhosis... OMIM:619418
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarni... ORPHA:157
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... ORPHA:159
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa, Congenital diaphragmatic hernia OMIM:614100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypocholesterolemia, Hepatomegaly OMIM:618810
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Hepatosplenomegaly, Reticular pattern on p... ORPHA:99931
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... OMIM:603553
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Faci... ORPHA:31150
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Proteasome-Associated Autoinflammatory Syndrome 1
Progeroid facial appearance, Macroglossia, Decreased HDL cholesterol concentration, Recurrent upp... OMIM:256040
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Cutis Laxa, Autosomal Dominant 1
Emphysema, Prematurely aged appearance, Progeroid facial appearance, Inguinal hernia, Redundant skin OMIM:123700
Retinitis Pigmentosa 27
Pallor OMIM:613750
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Elevated hepatic transaminase, Cirrhosis, Panacinar emphysema, Hepatocellular... OMIM:613490
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Avian Influenza
Pulmonary infiltrates, Nonproductive cough, Ground-glass opacification, Pneumonia, Hypoxemia, Tac... ORPHA:454836
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respira... OMIM:178550
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Immunodeficiency 27A
Pulmonary infiltrates, Hepatosplenomegaly, Pneumonia, Splenomegaly, Abnormal bronchus physiology,... OMIM:209950
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Increased total bilirubin ORPHA:90037
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Ankle flexion contracture, Knee flexion contracture, Limb joint contracture, Hy... ORPHA:284417
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia ORPHA:896
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Aspergillosis
Pulmonary infiltrates, Hypersensitivity pneumonitis, Parenchymal consolidation, Pneumonia, Abnorm... ORPHA:1163
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated ci... ORPHA:228308
Fumarase Deficiency
Hepatic failure, Cholestasis, Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Pallor OMIM:606812
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
H Syndrome
Lipodystrophy, Hepatosplenomegaly, Hernia, Bronchiectasis, Recurrent pharyngitis, Hypertriglyceri... ORPHA:168569
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Hepatic failure, Hepatomegaly, Low plasma citrulline OMIM:261680
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Highly elevated creatine kinase, Respiratory failure, Respiratory insufficiency, Atel... ORPHA:258
Apnea, Central Sleep
Cyanosis OMIM:207720
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71526
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia, Intraalveolar phospholipid accumulation, Abnormal circulating protein concen... ORPHA:747
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Myopathy, Hypertriglyceridemia, Decreased mus... ORPHA:261476
Evans Syndrome
Pallor, Bruising susceptibility, Petechiae, Jaundice ORPHA:1959
Congenital Pulmonary Lymphangiectasia
Cyanosis, Hepatomegaly, Splenomegaly, Pleural effusion ORPHA:2414
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hypokalemia, Hepatosplenomegaly OMIM:611590
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Hyponatremia, Hypercholest... ORPHA:275761
Lysinuric Protein Intolerance
Hepatic failure, Pancreatitis, Hyperammonemia, Decreased HDL cholesterol concentration, Increased... ORPHA:470
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Chronic hepatitis, Splenomegaly, Jaundice, Abnormality of iron hom... ORPHA:231226
Aapoaiv Amyloidosis
Abnormal lung morphology, Chronic pulmonary obstruction, Hyperlipidemia, Elevated circulating cre... ORPHA:439232
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia, Pallor, Skin ulcer ORPHA:822
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Pallor ORPHA:3226
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid accumulation, Recurrent ... OMIM:610910
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Retinitis Pigmentosa 73
Pallor OMIM:616544
Lujo Hemorrhagic Fever
Nonproductive cough, Crackles, Elevated circulating C-reactive protein concentration, Atelectasis... ORPHA:319213
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Non-Functioning Paraganglioma
Pallor, Flushing, Hypercalcemia ORPHA:94080
Hypoadrenocorticism, Familial
Cyanosis, Hyperkalemia, Hyponatremia OMIM:240200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypn... ORPHA:217563
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Elevated circulating C-reactive protein concentration, Pyoderma... ORPHA:49566
Pulmonary Alveolar Microlithiasis
Pulmonary infiltrates, Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis,... ORPHA:60025
Myopathy, Mitochondrial, And Ataxia
Multiple lipomas, Increased variability in muscle fiber diameter, Elevated circulating creatine k... OMIM:617675
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Pulmonary embolism, Pleural effusion, Respiratory tract infection, Dyspnea, Hypoa... ORPHA:567546
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Flexion contracture, Hepatomegaly, Abnormal subcutaneous fat tissue distributi... OMIM:212065
Potocki-Lupski Syndrome
Sleep apnea, Hypocholesterolemia OMIM:610883
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Splenomegaly, Prolonged neonatal jaun... OMIM:300908
Glycogen Storage Disease Ia
Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transaminase, Pancreat... OMIM:232200
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Sleep apnea, Respiratory failure, He... ORPHA:365
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates, Splenomegaly, Hepatomegaly OMIM:607685
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Primary Myelofibrosis
Petechiae, Portal hypertension, Ecchymosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Pallo... ORPHA:824
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of iron homeosta... ORPHA:231214
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Elevated hepatic iron concentra... ORPHA:300298
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Elevated hepatic transaminase, Increased total iron binding capacity, Pallor,... ORPHA:98870
Sepsis In Premature Infants
Cyanosis, Petechiae, Elevated circulating C-reactive protein concentration, Decreased liver funct... ORPHA:90051
Rheumatic Fever
Erythema, Abnormal pleura morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Pallo... ORPHA:3099
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Cholecystitis, Hyperuricemia, Dyspnea, H... ORPHA:90041
Glycogen Storage Disease Ib
Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transaminase, Pancreat... OMIM:232220
Glycogen Storage Disease Ic
Hepatoblastoma, Hyperlipidemia, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Xanthelasma, P... OMIM:232240
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Hyperuricemia, Elevated hepatic transaminase, Pallor, Neonatal h... ORPHA:348
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Parenchymal consolidatio... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery mo... ORPHA:2257
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Pulmonary infiltrates, Restrictive ventilatory defect, Pulmonary lymphang... ORPHA:538
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Cough ORPHA:2314
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Increased total bilirubin ORPHA:90036
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Cholestasis, Hypercholesterolemia, Peripheral... OMIM:118450
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Splenomegaly, Hepatomegaly, Atelectasis, Neonatal death, Respiratory insuffi... OMIM:269860
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Splenomegaly, Pleural effusion, Hepatomegaly, Cough, Atelec... OMIM:306400
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Bardet-Biedl Syndrome 20
Asthma, Hypercholesterolemia, Elevated hepatic transaminase, Pancreatitis OMIM:619471
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Bruising susceptibility, Hepatic steatosis, Hyperlipidemia, Striae distensae, Dorsocervical fat p... ORPHA:189427
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepa... ORPHA:79259
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Increased body weight, Primary hypercortisolism, Dorsocervi... OMIM:615830
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Increased circulating cortisol level, Abdominal obesity OMIM:615954
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Bruising susceptibility, Ventral hernia, Prominent veins on trunk, Inguinal hernia, W... ORPHA:536532
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Erythema, Macronodular cirrhosis, Hepatomegal... OMIM:557000
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Reduced forced expiratory volume in o... OMIM:300770
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body weight, Increased body mass index OMIM:614450
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated hepatic transa... ORPHA:158048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Zygomycosis
Pulmonary infiltrates, Epistaxis, Parenchymal consolidation, Sinusitis, Peritonitis, Pleural effu... ORPHA:73263
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia ORPHA:254346
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Dif... ORPHA:199241
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Parenchymal consolidation, Hypoxemia,... ORPHA:79128
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Bruising susceptibility, Hypoproteinemia, Hyponatre... ORPHA:167
Tetrasomy 5P
Cyanosis, Pericallosal lipoma, Recurrent respiratory infections, Aplasia/Hypoplasia of the abdomi... ORPHA:3309
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Hepatomegaly, Dyspnea, Elevated circulating creatine kinase concent... ORPHA:565612
Eosinophilic Fasciitis
Cellulitis, Myositis, Muscular edema, Fasciitis, Acrocyanosis ORPHA:3165
Dravet Syndrome
Pallor, Cyanotic episode ORPHA:33069
Primary Pigmented Nodular Adrenocortical Disease
Bruising susceptibility, Hepatic steatosis, Hyperlipidemia, Striae distensae, Dorsocervical fat p... ORPHA:189439
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Limb-girdle muscular dystrophy, Elevated circulating creatine kinase concen... ORPHA:96180
Atypical Werner Syndrome
Premature graying of hair, Hepatic steatosis, Abnormality of the Achilles tendon, Prominent super... ORPHA:79474
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Hepatomegaly ORPHA:163596
Hsd10 Disease, Infantile Type
Cyanosis, Hyperammonemia ORPHA:391428
Mandibuloacral Dysplasia Progeroid Syndrome
Macrovesicular hepatic steatosis, Flexion contracture, Generalized lipodystrophy, Progeroid facia... OMIM:619127
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Decreased liver function, Elevated circulating creatine kin... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Decreased liver function, Elevated circulating creatine kin... OMIM:618839
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Congenital Myasthenic Syndrome
Cyanosis, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Recurrent respiratory infect... ORPHA:590
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Hypotriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concen... ORPHA:14
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Recurrent respiratory infect... ORPHA:98914
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cirrhosis, Hepatic failure, Portal hypertension OMIM:210050
Legionnaires Disease
Pulmonary infiltrates, Restrictive ventilatory defect, Hyponatremia, Splenomegaly, Abnormal pleur... ORPHA:549
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Decreased adipose tissue around neck, Loss of truncal subcut... OMIM:608612
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Cold Agglutinin Disease
Pallor, Splenomegaly, Hepatomegaly ORPHA:56425
Birt-Hogg-Dubé Syndrome
Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Skin ulcer OMIM:604571
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Fucosidosis
Vascular skin abnormality, Abnormality of the gallbladder, Lipoatrophy, Hepatomegaly, Acrocyanosi... ORPHA:349
Tularemia
Pulmonary infiltrates, Pneumonia, Pleural effusion, Cough, Respiratory distress, Abnormal pulmona... ORPHA:3392
Abcd Syndrome
Large for gestational age OMIM:600501
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity OMIM:600955
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Hepatomegaly, Right ventricular hypertrophy, Anomalous pulmonary venous return ORPHA:860
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Respirat... ORPHA:51636
Adult Acute Respiratory Distress Syndrome
Pulmonary infiltrates, Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Pancreatitis, Abnormal... ORPHA:70578
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Splenic rupture, Right ventricular hypertrophy, Left ventricul... ORPHA:335
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepati... OMIM:619573
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Hyperuricemia, Ele... ORPHA:20
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Respiratory insufficiency, Atelec... ORPHA:534
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Halothane Hepatitis
Obesity OMIM:234350
Elliptocytosis 1
Pallor, Splenomegaly, Jaundice OMIM:611804
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Increased facial adipose tissue, Reduced subc... OMIM:248370
Fanconi Renotubular Syndrome 5
Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis, Hypophosphatemia OMIM:618913
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hypervent... ORPHA:91359
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Hyperlipidemia, Pancreatitis ORPHA:1830
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Pancreatic cysts OMIM:616307
Plummer-Vinson Syndrome
Pallor, Decreased circulating ferritin concentration ORPHA:54028
Alg12-Cdg
Recurrent pneumonia, Hyponatremia, Recurrent respiratory infections, Abnormal adipose tissue morp... ORPHA:79324
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Jaundice ORPHA:90033
Acquired Idiopathic Sideroblastic Anemia
Pallor, Splenomegaly, Hepatomegaly ORPHA:75564
Double Outlet Right Ventricle
Cyanosis, Hypocalcemia, Pulmonary artery atresia ORPHA:3426
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Waldenström Macroglobulinemia
Cutis marmorata, Urticaria, Pleural effusion, Splenomegaly, Hepatomegaly, Pallor, Purpura ORPHA:33226
Hereditary Folate Malabsorption
Pallor, Recurrent respiratory infections, Skeletal muscle atrophy ORPHA:90045
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Prominent scalp veins, Generalized amyotrophy, Lipoatrophy, Reduced subcutan... OMIM:264090
Beta-Ketothiolase Deficiency
Pallor, Hepatomegaly, Hyperammonemia, Hyperuricemia ORPHA:134
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture, Pallor ORPHA:98028
Pulmonary Arteriovenous Malformation
Cyanosis, Hypoxemia, Pulmonary hemorrhage, Hemothorax, Liver abscess, Telangiectasia, Pleural emp... ORPHA:2038
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Central sleep apnea, Obstructive sleep apnea, Hypertriglyceridemia, Abnormal lung ... ORPHA:369837
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Tracheomalacia, Atelectasis, Repeated pneumothoraces, Respiratory... ORPHA:536467
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Flushing, Hypercalcemia ORPHA:276621
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating creatinine concentration, Cholestasis, Bile duct prolifer... OMIM:619534
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Elevated circulating creatinine concentration, Partial anomalous pulm... OMIM:617478
American Trypanosomiasis
Pallor, Splenomegaly, Hepatomegaly ORPHA:3386
Retinitis Pigmentosa 51
Pallor OMIM:613464
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Bronchiectasis, Recurrent lower respiratory tract infecti... ORPHA:60033
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Urticaria, Hepatomegaly, Acrocyanosis, Purpura ORPHA:343
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Cutis marmorata, Angioedema, Hepatosplenomegaly, Skeletal muscle atrophy,... ORPHA:3260
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Fusariosis
Pulmonary infiltrates, Hypersensitivity pneumonitis, Abnormality of the liver, Pneumonia, Parench... ORPHA:228119
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Hypophosphatasia
Emphysema, Hypercalcemia ORPHA:436
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Hepatomegaly, Recurrent upper and lower respiratory tract infections, Elevate... ORPHA:331206
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Proximal amyotrophy, Reduced subcutaneous adipose tissue, Neoplasm of the liver, N... ORPHA:653
Adenohypophysitis
Pallor, Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Secondary Intestinal Lymphangiectasia
Pleural effusion, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hy... ORPHA:90363
X-Linked Lymphoproliferative Disease
Pulmonary granulomatosis, Increased circulating ferritin concentration, Hepatic failure, Hepatosp... ORPHA:2442
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:98375
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Hepatic failure, Skeletal muscle atrophy, Ragged-red muscle fibers, Splenomegaly, Hepat... OMIM:252010
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Macroglossia, Myopathy, Pulmonary edema OMIM:261740
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections ORPHA:2004
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic tr... OMIM:225750
Pituitary Apoplexy
Pallor, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Omphalocele, Overgrowth, Umbilical hernia ORPHA:254534
Autosomal Recessive Malignant Osteopetrosis
Bruising susceptibility, Hypocalcemia, Splenomegaly, Hepatomegaly, Recurrent respiratory infectio... ORPHA:667
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
22Q11.2 Deletion Syndrome
Cholelithiasis, Asthma, Hypocalcemia, Splenomegaly, Atelectasis, Chronic pulmonary obstruction, A... ORPHA:567
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Immunodeficiency 60 And Autoimmunity
Pulmonary infiltrates, Splenomegaly, Bronchiectasis, Pulmonary fibrosis, Recurrent sinopulmonary ... OMIM:618394
Panhypophysitis
Pallor, Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Goodpasture Syndrome
Pulmonary infiltrates, Parenchymal consolidation, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Hepatomegaly, Right ventricular hypertrophy, Anomalous pulmonary venous return ORPHA:555874
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Elevated circulating C-reactive protein concentration, Bronchiectasis, Pulmon... OMIM:619632
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Anemic pallor, Abnormal circulating protein concentra... ORPHA:86839
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia ORPHA:91
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Abnormal tendon morphology, Hyperlipidemia, Hypercholesterolemia, Myocardial s... ORPHA:391665
Acquired Methemoglobinemia
Cyanosis, Hypoxemia ORPHA:464453
Congenital Tracheomalacia
Cyanosis, Emphysema, Recurrent upper respiratory tract infections, Pneumonia, Partial anomalous p... ORPHA:95430
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness OMIM:207950
Sheehan Syndrome
Pallor, Decreased circulating cortisol level, Hyponatremia, Dry skin ORPHA:91355
Ethylene Glycol Poisoning
Cyanosis, Hyperkalemia, Hypocalcemia, Facial palsy, Pulmonary edema ORPHA:31826
Gaucher Disease, Type I
Pulmonary infiltrates, Epistaxis, Splenomegaly, Hepatomegaly, Dyspnea, Pulmonary arterial hyperte... OMIM:230800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Hyperlipidemia, Hyponatremia, Asthma, Obstructive s... ORPHA:293987
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor, Decreased serum iron OMIM:616959
Hypogonadotropic Hypogonadism 27 Without Anosmia