Gene: Lmf1 MGI:1923733

Registered for phenotyping at IMPC

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

Gene Summary

Name:

lipase maturation factor 1

Synonyms:

Tmem112, 2400010G15Rik

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 Lmf1 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 Lmf1 (1 diseases)
Human diseases predicted to be associated with Lmf1 (537 diseases)

The table below shows human diseases associated to Lmf1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Lipase Deficiency, Combined		Hypertriglyceridemia	OMIM:246650

The table below shows human diseases predicted to be associated to Lmf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hypertriglyceridemia, Hy...	OMIM:232700
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Familial Chylomicronemia Syndrome	Pulmonary embolism, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl...	ORPHA:444490
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Combined Low Ldl And Fibrinogen	Elevated circulating aspartate aminotransferase concentration, Decreased LDL cholesterol concentr...	OMIM:620364
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Congestive heart failure, Obesity, Increased LDL cholest...	OMIM:615703
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Hypertriglyceridemia, Transient Infantile	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:614480
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperli...	OMIM:615947
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hypercholesterolemia, Hyp...	OMIM:306000
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol...	OMIM:207750
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased lecithin cholesterol acyl transferase level, Hypertriglyceridemia, Decreased HDL choles...	OMIM:245900
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Hyperlipoproteinemia, Type V	Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Increased circu...	OMIM:144650
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss...	OMIM:616516
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertension, Hypertriglyceridemia, Sudden cardiac death...	OMIM:610947
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevated circulating alk...	OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased...	OMIM:605814
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Apolipoprotein C-Iii Deficiency	Decreased LDL cholesterol concentration, Hypotriglyceridemia, Increased HDL cholesterol concentra...	OMIM:614028
Cholesteryl Ester Storage Disease	Jaundice, Hepatic failure, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatomegaly, Decreased acid sphin...	OMIM:607616
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio...	ORPHA:90064
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Gait disturbance, Pallor, Failure to thrive	ORPHA:79283
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Increased LDL cholesterol concentration, H...	ORPHA:247598
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Incre...	OMIM:278000
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor	OMIM:614278
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Evans Syndrome	Epistaxis, Bruising susceptibility, Pallor, Petechiae, Lethargy, Syncope, Jaundice	ORPHA:1959
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy...	OMIM:613561
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, ...	ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi...	OMIM:619662
Protoporphyria, Erythropoietic, 1	Hepatic failure, Hypertriglyceridemia	OMIM:177000
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia	ORPHA:71529
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:176860
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Increased circulating iron concentration, Elevated circulating hepatic transam...	ORPHA:98870
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, ...	ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, He...	ORPHA:324575
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderm...	ORPHA:49566
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Glycogen Storage Disease Iii	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Reduced muscle glycogen ...	OMIM:232400
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration, Gait ataxia	OMIM:618808
Citrullinemia, Type Ii, Adult-Onset	Elevated gamma-glutamyltransferase level, Hyperammonemia, Hyperargininemia, Elevated circulating ...	OMIM:603471
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Buerger Disease	Vasculitis, Arterial occlusion, Skin ulcer, Intermittent claudication, Livedo reticularis, Raynau...	ORPHA:36258
Hyperalphalipoproteinemia 1	Increased HDL cholesterol concentration	OMIM:143470
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hepatom...	OMIM:612526
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia	ORPHA:488650
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert...	OMIM:618620
Acute Myelomonocytic Leukemia	Weight loss, Abnormal bleeding, Pallor	ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Pallor	ORPHA:75563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, ...	ORPHA:276580
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis, Failure to thrive, Low-output congestive heart failure	ORPHA:91130
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Ataxia, Failure to thrive, Increased circulating ferritin concentration, Increas...	OMIM:267700
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Skin...	ORPHA:507
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:94080
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, H...	ORPHA:280356
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Increased ...	OMIM:613027
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism, Myocardial infarction	ORPHA:3325
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	ORPHA:94124
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Lethargy, Short stature, Cardiac...	ORPHA:49827
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Prominent superficial veins, Hypertriglyceridemia,...	OMIM:608600
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Large for gestational age, Hypophosphate...	ORPHA:263455
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lack of skin elastici...	OMIM:615381
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Failure to thrive, Petechiae, Ataxia, Acrocy...	OMIM:602473
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dry skin, Abnormality of alkaline phosphatase level, Growth delay, Hypertriglyceridemia	OMIM:618010
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:612336
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hepatosplenomegaly, Abnormal circulating enzyme con...	ORPHA:79237
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa...	ORPHA:247585
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperlipidemia	ORPHA:2089
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor, Lethargy, Ataxia, Growth delay	OMIM:500007
Tangier Disease	Dry skin, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decreased...	OMIM:205400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia	OMIM:118830
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration...	ORPHA:209902
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Tachycardia, Lethargy, Pallor	ORPHA:276608
Breath-Holding Spells	Pallor, Cyanosis	OMIM:607578
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Gait ataxia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hypertrig...	ORPHA:363400
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Acrocyanosis	OMIM:302000
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Abdominal obesity, Hypercholesterolemia, Truncal obesity...	OMIM:615812
Primary Myelofibrosis	Abnormal bleeding, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly,...	ORPHA:824
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Purpura, Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Pallor	ORPHA:46532
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Ventricular escape rhythm, Obesity,...	ORPHA:98855
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Hepatomegaly, Abnorma...	ORPHA:848
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Spontaneous Periodic Hypothermia	Arrhythmia, Gait disturbance, Pallor, Ataxia	ORPHA:29822
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Reduced subcutaneous adipose tissue, Cirr...	OMIM:604367
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Cyanosis, Pulmonary arterial hypertension, Hep...	ORPHA:2414
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Pallor, ...	OMIM:266200
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardiomyopathy, Ventri...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardiomyopathy, Ventri...	ORPHA:98853
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Phosphoserine Aminotransferase Deficiency	Hypoglycinemia, Hyposerinemia, Cyanotic episode	OMIM:610992
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem...	ORPHA:567548
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu...	OMIM:277460
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl...	OMIM:620454
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Xanthe...	ORPHA:412
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Pulmonary Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemo...	ORPHA:2038
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Tip-toe gait, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Obe...	ORPHA:98863
Temple Syndrome	Intrauterine growth retardation, Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglycerid...	OMIM:616222
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Portal hypertension, Neonatal cholestatic liver dise...	ORPHA:1414
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Increased circulating ferritin concentration, Postnatal growth retardation, Hypertrig...	OMIM:620603
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,...	ORPHA:335
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concentration, Fatal l...	ORPHA:275761
Congenital Generalized Lipodystrophy	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirr...	ORPHA:528
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor, Hepatomegaly, Short stature, Jaundice, Growth delay	OMIM:615631
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Elevated circulating hepatic transaminase concentration, Failure to thri...	OMIM:603553
Benign Paroxysmal Torticollis Of Infancy	Pallor, Ataxia	ORPHA:71518
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Fa...	ORPHA:1329
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Pallor, Increased total bilirubin	ORPHA:90037
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Portal vein thrombosis, Pulmonary embolism	ORPHA:82
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyop...	ORPHA:156
Sepsis In Premature Infants	Hypotension, Abnormal bleeding, Decreased liver function, Pallor, Petechiae, Cyanosis, Decreased ...	ORPHA:90051
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Obesity, Hypercholesterolemia, Intrauterine growth retardation	ORPHA:254531
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Lethargy, Choreoathetosis, Ataxia	ORPHA:71277
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hepatosplenomegaly, Pallor, Hypokalemia, Lethargy, Short stature	OMIM:611590
Hereditary Spherocytosis	Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Hyperbilirubinemia, Pallor, Ataxia, Hepat...	ORPHA:822
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo...	OMIM:208920
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat...	ORPHA:86816
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Werner Syndrome	Subcutaneous calcification, Progeroid facial appearance, Elevated circulating aspartate aminotran...	OMIM:277700
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomy...	ORPHA:98907
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live...	ORPHA:231222
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity, Hyperammonemi...	ORPHA:391428
Deafness-Lymphedema-Leukemia Syndrome	Bruising susceptibility, Pallor, Weight loss, Hepatomegaly, Intracranial hemorrhage, Prolonged bl...	ORPHA:3226
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Leber Congenital Amaurosis 14	Falls, Pallor	OMIM:613341
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Low plasma citrulli...	OMIM:261680
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor	ORPHA:209981
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis, Failure to thrive, Ataxia	ORPHA:51188
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased circulating lactate dehydrogenase concentration, Pallor, Ataxia, Hepatomegaly, Jaundice	OMIM:613839
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptide level	OMIM:615238
Laron Syndrome	Severe short stature, Delayed puberty, Hypercholesterolemia, Truncal obesity, Prematurely aged ap...	ORPHA:633
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Premature graying of hair, Reduced subcutaneous adipose...	ORPHA:1979
Neuralgic Amyotrophy	Short stature, Acrocyanosis, Redundant neck skin	ORPHA:2901
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:567983
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Dry skin, Abnormal circulating thyroglobulin conc...	ORPHA:90674
Perching Syndrome	Cyanosis	OMIM:617055
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Primary Lateral Sclerosis, Juvenile	Loss of ambulation, Spastic gait, Pallor	OMIM:606353
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:276621
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Renovascular hypertension, Hypercholesterolemia, Sh...	ORPHA:401923
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Morgagni-Stewart-Morel Syndrome	Hypertension, Obesity, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Pal...	ORPHA:20
Optic Atrophy 1	Pallor, Ataxia	OMIM:165500
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Postnatal growth retar...	ORPHA:79240
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Abnormal ci...	ORPHA:348
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	OMIM:300972
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Pallor, Hepatomegaly, Heart m...	ORPHA:99931
Gaisböck Syndrome	Elevated diastolic blood pressure, Obesity, Cholecystitis, Hyperuricemia, Plethora, Hypovolemia, ...	ORPHA:90041
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Cyanosis, Abnorm...	ORPHA:860
Myopathic Ehlers-Danlos Syndrome	Poor wound healing, Tip-toe gait, Failure to thrive, Pallor, Mildly elevated creatine kinase	ORPHA:536516
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, De...	OMIM:277400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Prolonged bleeding following procedure, Hepatic steatosis, Hepatomegaly, Hypertrigly...	ORPHA:79259
Primary Biliary Cholangitis	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Bil...	ORPHA:186
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Erythema, Growth delay, Ataxia, Hepatomegaly, Acrocyanos...	ORPHA:343
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Atrial Septal Defect, Ostium Primum Type	Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Failure to thr...	ORPHA:99106
Griscelli Syndrome Type 2	Jaundice, Hyperlipidemia	ORPHA:79477
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Obesity, Intrauterine growth retardation, Hypercholesterolemia, Tru...	ORPHA:96184
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Difficulty walking, Hepa...	OMIM:610717
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co...	OMIM:616267
Rheumatic Fever	Epistaxis, Erythema, Pallor, Arrhythmia, Gait disturbance, Myocarditis, Pericarditis	ORPHA:3099
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor, Increased total bilirubin	ORPHA:90036
Sitosterolemia 1	Abnormal bleeding, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase conce...	OMIM:210250
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Pallor, Dysmetria, Elevated circulating creat...	OMIM:617675
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Premature skin wrinkling, Premature graying of h...	ORPHA:363618
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosi...	ORPHA:79083
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Hepatosplenom...	ORPHA:231226
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Jaundice, Pallor, Congestive heart failure	ORPHA:90033
Seckel Syndrome 10	Severe short stature, Congestive heart failure, Elevated circulating aspartate aminotransferase c...	OMIM:617253
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg...	ORPHA:99103
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl...	OMIM:246450
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Cyanosis, Weight loss, Abnormal circul...	ORPHA:747
Dravet Syndrome	Progressive gait ataxia, Bradykinesia, Pallor, Cyanotic episode	ORPHA:33069
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertriglyceridemia,...	OMIM:613327
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ...	ORPHA:33226
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Smith-Magenis Syndrome	Increased body weight, Short stature, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Cholelithiasis, Hepatic failure, Abnormal bleeding, Abnormal circulating lipid concentrat...	ORPHA:77293
Acquired Methemoglobinemia	Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia	ORPHA:464453
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Abnormal bleeding, Congestive hear...	ORPHA:57777
Rhabdoid Tumor	Hypercalcemia, Neoplasm of the liver, Weight loss, Internal hemorrhage, Hypertension	ORPHA:69077
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Hereditary Methemoglobinemia	Cyanosis, Athetosis, Small for gestational age	ORPHA:621
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Bradycardia, Truncal ataxia, Acrocyanosis, Growth delay	OMIM:614407
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Increased circulati...	ORPHA:635
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Pallor, Hepatomegaly, Ja...	OMIM:194380
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:29072
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, In...	OMIM:225750
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyopathy, Third degree a...	OMIM:619573
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Cyanosis...	ORPHA:99104
Beta-Ketothiolase Deficiency	Hypotension, Pallor, Hyperammonemia, Hyperuricemia, Weight loss, Ataxia, Hepatomegaly, Hypertension	ORPHA:134
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pallor, Pericarditis, Congestive heart failure	ORPHA:163596
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor, Jaundice, Decreased glucose-6-phosphate dehydrogenase level in blood, Prolonged neonatal ...	OMIM:300908
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Abnormal circulating albumin concentration, Anemic pallor, Abnor...	ORPHA:86839
Tetrasomy 5P	Failure to thrive, Congestive heart failure, Postnatal growth retardation, Cyanosis, Redundant ne...	ORPHA:3309
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Failure to thrive in infancy, Intrauterine growth retardation, Hyperglycinemia, Cy...	ORPHA:284417
Combined Oxidative Phosphorylation Defect Type 23	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely redu...	ORPHA:444013
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest...	ORPHA:64753
Acquired Generalized Lipodystrophy	Progeroid facial appearance, Cardiomyopathy, Abnormal circulating lipid concentration, Abnormal c...	ORPHA:79086
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Pallor, Elevated hepatic iron concentration, Hepato...	OMIM:615234
Methanol Poisoning	Permanent atrial fibrillation, Inflammatory arteriopathy, Hyperlipidemia, Cerebral hemorrhage, In...	ORPHA:31825
Lipodystrophy, Familial Partial, Type 7	Dysdiadochokinesis, Failure to thrive, Progeroid facial appearance, Facial wrinkling, Dry skin, C...	OMIM:606721
Infant Acute Respiratory Distress Syndrome	Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia	ORPHA:70587
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Hepatosplenom...	ORPHA:231214
Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Ataxia, Elevated circulating hepatic transaminase concentration, Ab...	ORPHA:167
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, Gait disturbance, Delayed puberty, Hypercholesterolemia, H...	ORPHA:819
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia	OMIM:616730
Double Outlet Right Ventricle	Failure to thrive, Heart murmur, Hypocalcemia, Cyanosis, Short stature, Tachycardia, Pulmonic ste...	ORPHA:3426
Necrotizing Enterocolitis	Hypotension, Shock, Cyanosis, Hyponatremia, Lethargy, Bradycardia, Small for gestational age	ORPHA:391673
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Tricuspid regurgitation, Palpitations, Central cyanosis, Increased left ven...	OMIM:620067
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis, Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 red...	OMIM:250800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Progeroid facial appearance, Decreased HDL cholesterol conc...	ORPHA:280365
Hemoglobin D Disease	Pallor	ORPHA:90039
Obesity Due To Congenital Leptin Deficiency	Orthostatic hypotension due to autonomic dysfunction, Obesity, Hypertriglyceridemia	ORPHA:66628
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Hypertriglyceridemia, H...	ORPHA:2348
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Postn...	ORPHA:2457
Obesity Due To Leptin Receptor Gene Deficiency	Orthostatic hypotension due to autonomic dysfunction, Obesity, Hypertriglyceridemia	ORPHA:179494
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor, Dysmetria, Weight loss, Gait disturbance, Ataxia, Short ...	OMIM:301310
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Elevated pulmonary ...	ORPHA:199241
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv...	ORPHA:70591
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	ORPHA:745
Pearson Marrow-Pancreas Syndrome	Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to th...	OMIM:557000
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility	OMIM:262850
Galloway-Mowat Syndrome 7	Short stature, Dilated cardiomyopathy, Hypercholesterolemia	OMIM:618348
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa...	ORPHA:183
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Failure to thrive, Increased circulating ferritin concentration, Pallor, Delayed puberty, Growth ...	OMIM:600462
Surfactant Metabolism Dysfunction, Pulmonary, 1	Cyanosis, Pulmonary arterial hypertension, Failure to thrive, Neonatal death	OMIM:265120
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Pallor, Hepatomegaly, Arrhythmia, Myocarditis	ORPHA:3386
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:157
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Cya...	ORPHA:2326
Acquired Idiopathic Sideroblastic Anemia	Hepatomegaly, Abnormal bleeding, Pallor, Congestive heart failure	ORPHA:75564
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Subcutaneous hemorrhage, Purpura, Pulmonary embolism, Skin ulcer	ORPHA:743
Alstrom Syndrome	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Decreased HDL ch...	OMIM:203800
Myelofibrosis	Hepatomegaly, Purpura, Pallor	OMIM:254450
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Hypoxemia, Weight loss, Cyanosis	ORPHA:1302
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Hypertriglyceridemia, Reduced subcutaneous adipose tissue, Hypercholesterolemi...	OMIM:151660
Retinitis Pigmentosa 51	Obesity, Pallor	OMIM:613464
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Elevated total serum tryptase, Pallor, Weight loss, Syncope, Hepatomegaly, Tachycard...	ORPHA:98849
Immunodeficiency 97 With Autoinflammation	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:619802
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Falls, Pallor, Ataxia, Bradykinesia, Choreoathetosis	ORPHA:13
Asbestos Intoxication	Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugular reflux, Hypox...	ORPHA:2302
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
High Altitude Pulmonary Edema	Tachycardia, Hypoxemia, Cyanosis	ORPHA:330012
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Portal fibrosis, Congestive heart ...	ORPHA:3260
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Cyanosis, Elevated circulating C-reactive protein ...	ORPHA:79126
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Jaundice, Pulmonary arterial hypertension, Cirrhosis, ...	OMIM:215600
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hyperbilirubinemia, Pallor, Reduced...	OMIM:606812
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertr...	OMIM:617591
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Hereditary Bullous Dystrophy, Macular Type	Short stature, Heart murmur, Acrocyanosis, Growth delay	ORPHA:1867
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Cyanosis	OMIM:240200
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Facial erythema, Pallor	ORPHA:439218
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:228308
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Failure to thrive	OMIM:263000
Elliptocytosis 1	Jaundice, Pallor	OMIM:611804
Obesity-Hypoventilation Syndrome	Obesity, Cyanosis	OMIM:257500
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Failure to thrive, Pallor, Weight loss, Tachycardia	ORPHA:35858
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Primary Hyperoxaluria	Elevated circulating hepatic transaminase concentration, Arterial occlusion, Failure to thrive, C...	ORPHA:416
Glycerol Kinase Deficiency	Lethargy, Hypertriglyceridemia, Short stature, Hyperglycerolemia, Growth delay, Small for gestati...	OMIM:307030
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Intrauterine growth retardation, Cyanosis, Hepatomegaly, Hypoxemia, Smal...	ORPHA:555874
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Xanthelasma, Hyperlip...	OMIM:232200
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, H...	ORPHA:90308
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper...	ORPHA:439232
Overhydrated Hereditary Stomatocytosis	Pulmonary embolism, Hyperbilirubinemia, Hepatomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:185000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Bruising susceptibility, Hyperaldosteronism, Striae distens...	ORPHA:189427
Prader-Willi Syndrome	Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Intraut...	OMIM:176270
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Hematochezia, Anemic pallor, Growth delay	ORPHA:329971
Polycythemia Vera	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib...	ORPHA:729
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Failure to thrive, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomy...	OMIM:252010
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Failure to thrive, Failure to thrive in infancy, Hepatic steatosis, Mi...	OMIM:619418
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, P...	ORPHA:331206
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Cirrhosis, Facial telangiectasia, Cerebral hemorrhage, Fingerpad tel...	OMIM:600376
Megalocornea-Intellectual Disability Syndrome	Short stature, Hypercholesterolemia, Ataxia	ORPHA:2479
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemorrhage, Inc...	ORPHA:99827
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Orthodeoxia, Acrocyanosis	ORPHA:2032
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Pallor	OMIM:246400
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Elevated circulating hepatic transaminase concentration, Increased circulating ferritin c...	ORPHA:158048
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Hypocalcemia, Cyanosis, Prolonged QT interval, Atax...	ORPHA:31826
Dermatomyositis	Erythema, Dry skin, Arrhythmia, Weight loss, Cutaneous photosensitivity, Vasculitis, Increased ci...	ORPHA:221
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Reduced hepatic glucose-6-phosphate tran...	OMIM:232220
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Hyperphosphatemi...	ORPHA:340
Hellp Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:244242
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Severe failure to thrive, Cyanosis, Pulmonic stenosis	ORPHA:3304
H Syndrome	Hepatosplenomegaly, Abnormal cardiovascular system physiology, Facial telangiectasia, Delayed pub...	ORPHA:168569
Tricuspid Atresia	Cyanosis	ORPHA:1209
Alternating Hemiplegia Of Childhood	Failure to thrive, Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhy...	ORPHA:2131
Aregenerative Anemia	Abnormal bleeding, Bruising susceptibility, Pallor	ORPHA:101096
Neuhauser Syndrome	Short stature, Hypercholesterolemia, Ataxia	OMIM:249310
Sheehan Syndrome	Dry skin, Obesity, Palpitations, Pallor, Hyponatremia, Decreased circulating cortisol level, Orth...	ORPHA:91355
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Failure to thrive, Progeroid f...	OMIM:256040
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Hypercholesterolemia	OMIM:619471
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Cutis marmorata, Hyperoxaluria, Intermittent claudica...	OMIM:259900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Criss-Cross Heart	Supravalvular aortic stenosis, Cyanosis, Mitral stenosis, Tricuspid stenosis, Pulmonic stenosis	ORPHA:1461
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hypoxemia, Weight loss, Pulmonary venous hypertension	ORPHA:90060
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Postnatal growth retardation, Hypertrophic cardiomyopathy, Mitral regurg...	ORPHA:75249
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Difficulty walking, Gait imbalance, Cyanosis, Gait disturbance	ORPHA:488627
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Progeroid facial appearance, Tricuspid r...	OMIM:619127
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen, Ortho...	OMIM:223900
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hyperglycinemia, Cyanosis, Lethargy, Hypernatremia	OMIM:620423
Fanconi Anemia, Complementation Group I	Short stature, Intrauterine growth retardation, Pallor, Decreased body weight	OMIM:609053
Marburg Hemorrhagic Fever	Excessive bleeding after a venipuncture, Jaundice, Tachycardia, Shock, Elevated circulating creat...	ORPHA:99826
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Mandibuloacral Dysplasia With Type A Lipodystrophy	Postnatal growth retardation, Hyperlipidemia, Reduced subcutaneous adipose tissue, Hypercholester...	OMIM:248370
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Pallor, Orthostatic hypotension	ORPHA:95512
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Elevated circulating a...	OMIM:619534
Primary Pulmonary Hypoplasia	Cyanosis, Intrauterine growth retardation, Hypoxemia, Failure to thrive	ORPHA:2257
Pituitary Apoplexy	Hypotension, Increased circulating cortisol level, Pallor, Hyponatremia, Hypertension	ORPHA:95613
Familial Multiple Nevi Flammei	Skin ulcer, Arrhythmia, Pulmonary embolism, Intracranial hemorrhage	ORPHA:624
Classical-Like Ehlers-Danlos Syndrome Type 2	Redundant skin, Bruising susceptibility, Prominent veins on trunk, Hypertriglyceridemia	ORPHA:536532
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Obesity, Low alkaline phosphatase, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Chronic Pneumonitis Of Infancy	Cyanosis, Hypoxemia, Failure to thrive	ORPHA:91359
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Reduc...	OMIM:608594
Spastic Paraplegia Type 2	Spastic gait, Pulmonary embolism, Ataxia	ORPHA:99015
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentr...	ORPHA:3202
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Skin ulcer, Transient ischemic attack, Cutis marmorata, A...	ORPHA:464343
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Congestive heart failure, Intrauterine growth retardation, Transient ischemic ...	ORPHA:1830
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Postinfectious Vasculitis	Palpable purpura, Cerebral vasculitis, Elevated haptoglobin level, Cardiomyopathy, Cutis marmorat...	ORPHA:48435
Familial Dysautonomia	Hyponatremia, Hypertension, Gait disturbance, Orthostatic hypotension, Ataxia, Tachycardia, Acroc...	ORPHA:1764
Surfactant Metabolism Dysfunction, Pulmonary, 2	Cyanosis, Hypoxemia, Pulmonary arterial hypertension, Failure to thrive	OMIM:610913
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Increased pulmonary vascula...	ORPHA:60025
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol...	OMIM:118450
Yellow Fever	Abnormal bleeding, Shock, Elevated circulating creatinine concentration, Reduced left ventricular...	ORPHA:99829
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Pallor, Orthostatic hypotension	ORPHA:95513
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Palpitations, Hyperlipidemia, Abnormal circulating enzyme concentration or activi...	ORPHA:565612
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatic ste...	OMIM:269700
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Cyanosis, Systolic heart murmur	OMIM:617478
Plummer-Vinson Syndrome	Pallor, Decreased circulating ferritin concentration	ORPHA:54028
Cold Agglutinin Disease	Hepatomegaly, Pallor	ORPHA:56425
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Failure to thrive, Congestive heart failure, Cyanosis, Pulmonary arterial hypertension, Left vent...	ORPHA:99050
Goodpasture Syndrome	Pulmonary hemorrhage, Pallor, Cyanosis, Weight loss, Increased blood urea nitrogen	OMIM:233450
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98913
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort...	ORPHA:391665
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Gait ataxia, Cyanosis, Ataxia, Choreoathetosis	OMIM:619580
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Chiari Malformation Type Ii	Cyanosis, Ataxia	OMIM:207950
Fixed Subaortic Stenosis	Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit...	ORPHA:3092
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Mitral regurgitation, Severe failure to thrive, Weight loss, Left ventricu...	ORPHA:740
Atypical Werner Syndrome	Aortic valve stenosis, Subcutaneous calcification, Failure to thrive, Skin ulcer, Congestive hear...	ORPHA:79474
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Pallor, Hypocalcemia, Pulmonary arterial hypertension, Hypophosphatemia,...	ORPHA:667
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Dry skin, Hypertriglyceridemia	ORPHA:31150
Wiskott-Aldrich Syndrome	Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema...	ORPHA:906
Lead Poisoning	Increased LDL cholesterol concentration, Delayed puberty, Decreased HDL cholesterol concentration...	ORPHA:330015
Incontinentia Pigmenti	Short stature, Erythema, Retinal hemorrhage, Pallor	OMIM:308300
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Congenital Myasthenic Syndrome	Tip-toe gait, Difficulty walking, Cyanosis, Ataxia, Waddling gait	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Tip-toe gait, Difficulty walking, Cyanosis, Ataxia, Waddling gait	ORPHA:98914
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Failure to thriv...	ORPHA:79282
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Eosinophilic Fasciitis	Weight loss, Acrocyanosis	ORPHA:3165
Fanconi Anemia, Complementation Group E	Short stature, Anemic pallor, Bruising susceptibility, Small for gestational age	OMIM:600901
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Double Outlet Left Ventricle	Abnormal right ventricular function, Cyanosis, Failure to thrive, Systolic heart murmur	ORPHA:3427
Hereditary Folate Malabsorption	Pallor, Failure to thrive	ORPHA:90045
Myasthenia Gravis	Acrocyanosis, Hepatitis, Raynaud phenomenon	ORPHA:589
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Calcinosis	ORPHA:90154
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pallor, Hepatic cysts	OMIM:616307
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Hyperp...	ORPHA:94093
Fanconi Anemia, Complementation Group A	Short stature, Anemic pallor, Bruising susceptibility, Small for gestational age	OMIM:227650
Steinert Myotonic Dystrophy	Cholelithiasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, ...	ORPHA:273
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Budd-Chiari syndrome, Hepatomegaly, Growth delay, Hypoprotei...	OMIM:226300
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Increased circulating lactate dehydrogenase concentrat...	OMIM:309000
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Palpitations, Pallor, Hypokalemia, Weight loss, Delayed pu...	ORPHA:91347
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Fanconi Anemia, Complementation Group C	Bruising susceptibility, Intrauterine growth retardation, Anemic pallor, Short stature, Small for...	OMIM:227645
Poems Syndrome	Plethora, Pulmonary arterial hypertension, Weight loss, Hepatomegaly, Acrocyanosis	ORPHA:2905
Superficial Siderosis	Abnormal bleeding, Limb ataxia, Dysmetria, Subarachnoid hemorrhage, Persistent bleeding after tra...	ORPHA:247245
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Bardet-Biedl Syndrome	Ataxia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy...	ORPHA:110
Fucosidosis	Failure to thrive, Vascular skin abnormality, Abnormality of the gallbladder, Hepatomegaly, Acroc...	ORPHA:349
Glycogen Storage Disease Ic	Spider hemangioma, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, Pulmonary arterial...	OMIM:232240
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Non-Functioning Pituitary Adenoma	Hypotension, Pallor	ORPHA:91349
Congenital Tracheomalacia	Cyanosis, Cutis laxa, Pulmonary arterial hypertension, Failure to thrive	ORPHA:95430
Hypercholesterolemia, Familial, 1	Xanthelasma, Increased LDL cholesterol concentration	OMIM:143890
Meckel Syndrome 14	Tricuspid regurgitation, Hepatic fibrosis, Mitral regurgitation, Cyanosis	OMIM:619879
Prolactinoma	Hypotension, Delayed puberty, Pallor	ORPHA:2965
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Reduced...	ORPHA:653
Tay-Sachs Disease	Pallor	OMIM:272800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Failure to thrive, Cyanosis, Hypokalemia, Hyponatremia, Ataxia	OMIM:618426
Fabry Disease	Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Hyper...	ORPHA:324
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Difficulty ...	ORPHA:51
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Obesity, Hyperlipidemia, Cyanosis, Hypon...	ORPHA:293987
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Hypoxemia, Failure to thrive, Neonatal death	OMIM:610921
Degcags Syndrome	Failure to thrive, Premature graying of hair, Cholestasis, Intrauterine growth retardation, Hyper...	OMIM:619488
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Diamond-Blackfan Anemia 1	Failure to thrive, Congestive heart failure, Elevated red cell adenosine deaminase activity, Intr...	OMIM:105650
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Gastrointestinal ...	ORPHA:774
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e...	ORPHA:394
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abnormal left ventricular function...	ORPHA:892
Esophageal Atresia	Failure to thrive in infancy, Pallor, Cyanosis, Growth delay, Small for gestational age	ORPHA:1199
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Pallor, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hypertension	ORPHA:544482
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Wiedemann-Rautenstrauch Syndrome	Ataxia, Dermal translucency, Increased subcutaneous truncal adipose tissue, Failure to thrive, Pr...	ORPHA:3455
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pulmonary embolism, Increased circulating lactate dehyd...	ORPHA:447
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Skin ulcer, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, D...	ORPHA:534
Pulmonary Hypertension, Primary, 3	Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular...	OMIM:615343
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Premature skin wrinkling, Dry skin, Intrauterine growth retardation, Prominent...	OMIM:264090
Lymphoid Interstitial Pneumonia	Failure to thrive, Pulmonary venous hypertension, Weight loss, Raynaud phenomenon, Hepatomegaly, ...	ORPHA:79128
Generalized Arterial Calcification Of Infancy	Failure to thrive in infancy, Transient ischemic attack, Left ventricular systolic dysfunction, H...	ORPHA:51608
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Pallor, Lethargy, Short stature, Growth delay, Sm...	ORPHA:124
Waardenburg Syndrome Type 3	Acrocyanosis	ORPHA:896
Tarp Syndrome	Cyanosis, Intrauterine growth retardation, Failure to thrive, Broad-based gait	ORPHA:2886
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