Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lipase maturation factor 1
Synonyms:
2400010G15Rik,  Tmem112

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 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Pulmonary embolism, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Increased... ORPHA:444490
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Hyperlipoproteinemia, Type I
Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomicron... OMIM:238600
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated gamma-glutamyltransferase level OMIM:614480
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Obesity, Myocardial infarction OMIM:608320
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... OMIM:610717
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL choles... OMIM:615947
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased lecithin cholesterol acy... OMIM:245900
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... OMIM:144650
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Dyspn... OMIM:607616
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Jaundice, Hypertriglyceridemia, Hepatic failure ORPHA:75234
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Apolipoprotein C-Iii Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Decreased LDL cholesterol concentra... OMIM:614028
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:329249
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaundice, Elevated ... OMIM:214900
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance, Pallor ORPHA:79283
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... OMIM:613561
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Syncope, Pallor, Lethargy, Bruising susceptibility, Petechiae ORPHA:1959
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level... ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Pallor, Abnormality of iron homeostasis ORPHA:75563
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hepatic failure OMIM:177000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Acquired Purpura Fulminans
Shock, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Intracranial ... ORPHA:49566
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Decreased circul... ORPHA:324575
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Pallor, Weight loss ORPHA:517
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Gait ataxia OMIM:618808
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Post-partum hemorrhage, Melena, Oral cavity bleedin... ORPHA:98870
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Low-output congestive heart failure, Hypertrophic cardiomyopathy,... ORPHA:91130
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hyperalphalipoproteinemia 1
Increased HDL cholesterol concentration OMIM:143470
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Short stature, Hepatospl... OMIM:612526
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia... OMIM:603471
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure,... ORPHA:60041
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Jaundice, Hypertriglyceridemia OMIM:603552
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan... ORPHA:263501
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hy... ORPHA:276580
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Skin ulcer, Weight loss, Rhinitis... ORPHA:507
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Flushing, Palpitations... ORPHA:94080
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hypertension, Hepatic fibrosis, Hepati... ORPHA:280356
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr... ORPHA:69663
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, N... ORPHA:79237
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Elevated creatine k... ORPHA:159
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... OMIM:267700
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Cyanosis, Congestive heart failure, ... ORPHA:2414
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Restricti... OMIM:619013
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism ORPHA:3325
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatitis OMIM:300635
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Increased subcutaneous truncal a... OMIM:608600
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... ORPHA:263455
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, L... ORPHA:49827
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, El... OMIM:615381
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Gait ataxia, Hyp... ORPHA:363400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Hepatomegaly, Intercostal re... ORPHA:1329
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Spontaneous Periodic Hypothermia
Ataxia, Gait disturbance, Pallor, Arrhythmia, Abnormal pattern of respiration ORPHA:29822
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cy... ORPHA:2038
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:613027
Encephalopathy, Ethylmalonic
Ataxia, Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Failure to thrive, Pet... OMIM:602473
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Elevated circulating C-reactive... ORPHA:1302
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hyperlipidemia, Gr... ORPHA:369
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:2089
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... ORPHA:35909
Beta-Thalassemia
Hepatomegaly, Hepatitis, Respiratory insufficiency, Skin ulcer, Pallor, Abnormality of iron homeo... ORPHA:848
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Hypoglycinemia, Hyposerinemia OMIM:610992
Cyclic Vomiting Syndrome
Ataxia, Growth delay, Cardiomyopathy, Pallor, Lethargy OMIM:500007
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Abnormal mucoc... ORPHA:90051
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tachycardia, Increased body weight, Pallor ORPHA:276608
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis OMIM:302000
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
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
Buerger Disease
Acrocyanosis, Vasculitis, Skin ulcer ORPHA:36258
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98855
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98853
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Hepatosplenomegaly, R... ORPHA:99931
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Choreoathetosis, Lethargy ORPHA:71277
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated cir... ORPHA:158061
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Crackles, Dyspnea, Weight loss, Hypoxemia, ... ORPHA:747
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia OMIM:118830
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Prominent superfici... OMIM:604367
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98863
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Porta... ORPHA:824
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:255120
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Growth delay, Hypocholesterolem... ORPHA:71
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Ab... ORPHA:567548
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Optic Atrophy 1
Ataxia, Pallor OMIM:165500
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Angina pectoris, Obe... ORPHA:412
Temple Syndrome
Hypertriglyceridemia, Short stature, Small for gestational age, Overweight, Obesity, Truncal obes... OMIM:616222
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Jaundice, Cholecystitis, Unconjugated hyper... OMIM:266200
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Exertional dyspnea, Pallor, Increased total bilirubin ORPHA:90037
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Congestive heart failure, Cirrho... ORPHA:528
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Cyanosis, Internal hemorrhage, Prolonged prothrombin time, Gingiv... ORPHA:335
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Short stature, Jaundice, Growth delay, Pallor OMIM:615631
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hypovolemia, Hepatosplenomegaly... ORPHA:275761
Benign Paroxysmal Torticollis Of Infancy
Ataxia, Pallor ORPHA:71518
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism ORPHA:82
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr... ORPHA:2302
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Ataxia, Increase... OMIM:603553
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Hepatomegaly, Weight loss, Intracranial hemorrhage, Respiratory failure,... ORPHA:3226
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Hypercholesterolemia, Obesity, Intrauterine growth retardation ORPHA:254531
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Jaundice, Hyperlipidemia, Biliary... ORPHA:1414
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Microno... ORPHA:98907
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Hepatosplenomegaly, Hypokalemia, Pallor, Lethargy, Failure to thrive OMIM:611590
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Lo... ORPHA:86816
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Jaundice, Skin ulce... ORPHA:231222
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatic failure, Transient hyperlipidemia ORPHA:156
Werner Syndrome
Hypertriglyceridemia, Prematurely aged appearance, Elevated circulating aspartate aminotransferas... OMIM:277700
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Peripheral Cone Dystrophy
Pallor OMIM:609021
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Low p... OMIM:261680
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal... OMIM:265120
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Hereditary Spherocytosis
Hepatomegaly, Ataxia, Jaundice, Skin ulcer, Growth delay, Pallor, Hyperbilirubinemia, Restrictive... ORPHA:822
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator... ORPHA:70587
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hypertension, Hepatic steatosis, Increased C-peptide level OMIM:615238
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Laron Syndrome
Severe short stature, Prematurely aged appearance, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Cyanosis, Hyperammonemia, Choreoathetosis,... ORPHA:391428
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Ataxia, Jaundice, Pallor, Increased circulating lactate dehydrogenase concentration OMIM:613839
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Apnea, Cardiac arrest, Ataxia, Jaundice, Dilated car... ORPHA:20
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circu... ORPHA:567983
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Congestive heart f... ORPHA:860
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Flushing, Palpitations... ORPHA:276621
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Ataxia, Petechiae ORPHA:51188
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Pallor, Spastic gait OMIM:606353
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Erythema, Respiratory insufficiency, Gait distur... ORPHA:3099
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Short stature, Overweight, Dilated cardiomyopathy, Renovascular hypertensio... ORPHA:401923
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Dry skin, Growth delay, Bradycardia, Prolonged neonatal jaundice, Hypercholest... ORPHA:90674
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Gaisböck Syndrome
Plethora, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Dyspnea, Hypo... ORPHA:90041
Morgagni-Stewart-Morel Syndrome
Hypertension, Hypercholesterolemia, Hyperuricemia, Obesity ORPHA:77296
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Immunodeficiency 47
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tricuspid regurgitation, Decrease... OMIM:300972
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure, Jaundice, Pallor, Exertional dyspnea ORPHA:90033
Acute Interstitial Pneumonia
Cyanosis, Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, D... ORPHA:79126
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Respiratory failure requiring assisted ventilation, Decreased HD... ORPHA:77293
Myopathic Ehlers-Danlos Syndrome
Poor wound healing, Tip-toe gait, Pallor, Failure to thrive, Mildly elevated creatine kinase ORPHA:536516
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Vasculitis, Erythema, Urticaria, Growth delay,... ORPHA:343
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Hepatic steatosis, Abnormal bleeding, Hepatomegaly, Short... ORPHA:79259
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Emphysema, Intracranial hemorrhage, Hypertension,... ORPHA:363618
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Lack of skin elasticity, Weight loss, Premature gr... ORPHA:1979
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... OMIM:616267
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Pallor, Exertional dyspnea ORPHA:90036
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Postnatal growth retardation, Obesity, Truncal obesity,... ORPHA:96184
Rhabdoid Tumor
Hypercalcemia, Respiratory insufficiency, Weight loss, Hypertension, Neoplasm of the liver, Inter... ORPHA:69077
Dominant Beta-Thalassemia
Failure to thrive in infancy, High-output congestive heart failure, Jaundice, Dilated cardiomyopa... ORPHA:231226
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Cutis marmorata, Epistaxis, Ataxia, Congestive heart f... ORPHA:33226
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Lethargy, Abnormal bleeding, Hepatomegaly, Abnormal circ... ORPHA:470
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Short stature, Inability to walk, Dys... OMIM:617675
Griscelli Syndrome Type 2
Hyperlipidemia, Jaundice ORPHA:79477
Pulmonary Capillary Hemangiomatosis
Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Hypoxemia, Exertional ... ORPHA:199241
Sitosterolemia 1
Abnormal bleeding, Hyperapobetalipoproteinemia, Hypercholesterolemia, Elevated circulating sitost... OMIM:210250
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Short stature, Increased body weight OMIM:182290
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Prominent veins on trunk, Hypertens... ORPHA:79083
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... ORPHA:300298
Seckel Syndrome 10
Hypertriglyceridemia, Severe short stature, Elevated circulating aspartate aminotransferase conce... OMIM:617253
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Grow... OMIM:615234
Refractory Anemia With Excess Blasts
Abnormal bleeding, Abnormal circulating protein concentration, Anemic pallor, Abnormal circulatin... ORPHA:86839
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Inability to walk, Vasculitis, Erythe... OMIM:225750
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Tachypnea, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, Hypote... ORPHA:134
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Congestive hear... ORPHA:98908
Dravet Syndrome
Bradykinesia, Progressive gait ataxia, Cyanotic episode, Pallor ORPHA:33069
Tetrasomy 5P
Respiratory distress, Cyanosis, Redundant neck skin, Postnatal growth retardation, Congestive hea... ORPHA:3309
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Sinusitis, Myocardial infarction,... ORPHA:183
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Pallor, Cholelit... OMIM:194380
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Atrioventricular block, Growth delay, Bradycardia, Truncal ataxia, Acrocyanosis OMIM:614407
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Short stature, Tachypnea, Heart murmur, Hypocalcemia, Pulmonic stenosis, F... ORPHA:3426
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Beta-Thalassemia Major
Hepatomegaly, Failure to thrive in infancy, High-output congestive heart failure, Jaundice, Dilat... ORPHA:231214
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Orthostatic hypotension, Decreased adipose tissue around nec... OMIM:606721
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Cyanosis, Apnea OMIM:240200
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Dyspnea, Cardiomyopathy, Pallor, Cough, Arrh... ORPHA:3386
Chédiak-Higashi Syndrome
Abnormal bleeding, Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Ataxia, Epi... ORPHA:167
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Flushing, Palpitations... ORPHA:29072
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Pallor, Hepatomegaly ORPHA:163596
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Growth delay, Restrictive ventilatory defect, Pallo... OMIM:600462
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Increas... ORPHA:57777
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis, Obesity OMIM:257500
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Acquired Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Progeroid facial appearance, Abnormal cardiovascular system p... ORPHA:79086
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Failure to thrive in infancy, Obesity, Gait disturbance, Del... ORPHA:819
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose... OMIM:300908
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Hyposerinemia, Hyperglycinemia, Intrauterine growth retardation, Cy... ORPHA:284417
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Hyper... ORPHA:280365
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonpr... ORPHA:60025
Myelofibrosis
Pallor, Purpura OMIM:254450
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Rig... ORPHA:70591
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Hypertrophic cardiomyopathy, Hepati... ORPHA:2348
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Obesity, Orthostatic hypotension due to autonomic dysfunction ORPHA:66628
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Cough, Ra... ORPHA:3260
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Apnea, Pallor, Facial erythema ORPHA:439218
Hemoglobin D Disease
Pallor ORPHA:90039
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased subcutaneous truncal adipose tissue, Increased circulating free f... ORPHA:2457
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Obesity, Orthostatic hypotension due to autonomic dysfunction ORPHA:179494
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy, Short stature OMIM:618348
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Short stature, Congestive heart failure, Dilated cardiomyopathy, ... ORPHA:2326
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Hypertriglyceridemia, Failure to thrive OMIM:617591
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Prominent superficial veins, Decreased HDL cho... OMIM:151660
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanos... ORPHA:555874
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Erythe... OMIM:557000
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor, Hepatomegaly ORPHA:75564
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating... ORPHA:90060
Hereditary Bullous Dystrophy, Macular Type
Short stature, Pneumonia, Heart murmur, Growth delay, Acrocyanosis ORPHA:1867
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Weight loss, Urticaria, Syncope, Pallor, Elevated total serum tryptase... ORPHA:98849
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, C... OMIM:610921
Letterer-Siwe Disease
Dyspnea, Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Immunodeficiency 97 With Autoinflammation
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... OMIM:619802
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Choreoathetosis, Bradykinesia, Falls, Pallor ORPHA:13
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased... OMIM:215600
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Hyperuricemia, Hyperammonemia OMIM:246450
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Ataxia, Congestive hear... ORPHA:31826
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Elevated c... ORPHA:340
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Elliptocytosis 1
Jaundice, Pallor OMIM:611804
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Congestiv... ORPHA:90308
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Cyanosis, Apnea, Ataxia, Concentric hypertrophic cardiomyopathy,... OMIM:252010
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Decreased fumarate hydratase activity, In... OMIM:606812
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Weight loss, Restri... OMIM:233450
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ... OMIM:618183
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Ataxia, Cardiac conduction abnormality, Aspiration, Choreoathetosis,... ORPHA:2131
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Failure to thrive, Cutis marmorata, Heart block, Ra... ORPHA:416
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Weight loss, Pallor, Failure to thrive ORPHA:35858
Criss-Cross Heart
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr... ORPHA:1461
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Asthma, Obesity OMIM:619471
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Orthopnea, Cyanosis, Congestive h... ORPHA:980
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi... ORPHA:75249
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
H Syndrome
Hypertriglyceridemia, Short stature, Abnormal cardiovascular system physiology, Bronchiectasis, H... ORPHA:168569
Aregenerative Anemia
Abnormal bleeding, Dyspnea, Bruising susceptibility, Pallor ORPHA:101096
Neuhauser Syndrome
Hypercholesterolemia, Ataxia, Short stature OMIM:249310
Aortic Arch Interruption
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Cyanosis, Blood press... ORPHA:2299
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... ORPHA:158048
Hellp Syndrome
Elevated hepatic transaminase, Cerebral hemorrhage, Poor wound healing, Increased body weight, Pr... ORPHA:244242
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Growth delay, Anemic pallor, Hematochezia ORPHA:329971
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicular hepatic steatosi... OMIM:619418
Congenital Myasthenic Syndrome
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... ORPHA:590
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Pallor, Failure to thrive ORPHA:331206
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... ORPHA:98914
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia, Short stature ORPHA:2479
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Prolonged QRS complex, Apnea, Left axis deviation, Congestive hea... OMIM:261740
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis, Pulmonic stenosis ORPHA:3304
Tricuspid Atresia
Cyanosis ORPHA:1209
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppre... ORPHA:189427
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear... ORPHA:3092
Xp21 Deletion Syndrome
Growth delay, Apneic episodes in infancy, Elevated circulating creatine kinase concentration, Hyp... ORPHA:261476
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Pulmonary embolism, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice OMIM:185000
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Obesity, Palpitation... ORPHA:91355
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:256040
Chiari Malformation Type Ii
Cyanosis, Ataxia, Inspiratory stridor OMIM:207950
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Calcinosis, Postnatal growth retardation, Hype... OMIM:248370
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Hyponatremia, Neonatal respiratory distress, Cyanosis, Apnea, Ataxia, Hypop... OMIM:618426
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Hypertriglyceridemia, Eleva... OMIM:619127
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy, Gait disturbance, Gait imbalance, Difficulty walking ORPHA:488627
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Cyanosis, Congestive heart failure, Left ventricular outflow tract obstructi... ORPHA:99050
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Pallor, Decreased body weight OMIM:609053
Pituitary Apoplexy
Hyponatremia, Hypertension, Increased circulating cortisol level, Pallor, Hypotension ORPHA:95613
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Ataxia, Inability to walk, Gait ataxia, Choreoathetosis OMIM:619580
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Abnormal circulating protein concentration, Palpable purpur... ORPHA:48435
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoal... OMIM:619534
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Growth delay... OMIM:223900
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Hypoalbuminemia, Letharg... ORPHA:99826
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Low alkaline phosphatase, Obesity, Restrictive cardiomyopathy ORPHA:369837
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism ORPHA:624
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Pallor ORPHA:95512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Hypertriglyceri... OMIM:608594
19P13.12 Microdeletion Syndrome
Hyperlipidemia ORPHA:254346
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Growth delay, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, Pallor, Pulm... ORPHA:667
Classical-Like Ehlers-Danlos Syndrome Type 2
Bruising susceptibility, Redundant skin, Prominent veins on trunk, Hypertriglyceridemia ORPHA:536532
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Portal vein thrombosis, Increased circulating ferritin concentration... ORPHA:3202
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Hyperlipidemia, Heart murm... ORPHA:391665
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Spastic Paraplegia Type 2
Ataxia, Spastic gait, Pulmonary embolism ORPHA:99015
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Elevated ci... ORPHA:565612
Lymphoid Interstitial Pneumonia
Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypox... ORPHA:79128
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Growth delay, Hypertension, Gait dist... ORPHA:1764
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Hypertriglyceri... OMIM:269700
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Pallor ORPHA:54028
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Pallor ORPHA:95513
Glycerol Kinase Deficiency
Hypertriglyceridemia, Short stature, Small for gestational age, Hyperglycerolemia, Growth delay, ... OMIM:307030
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Erythem... ORPHA:221
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... ORPHA:740
Cold Agglutinin Disease
Hepatomegaly, Pallor ORPHA:56425
Yellow Fever
Abnormal bleeding, Shock, Elevated circulating aspartate aminotransferase concentration, Supraven... ORPHA:99829
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden cardia... ORPHA:906
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Dry skin, Hepatosplenomegaly ORPHA:31150
Esophageal Atresia
Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Episodic... ORPHA:1199
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Elevated circulating creatinine concentration, Systolic heart murmur OMIM:617478
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Short stature, Small for gestational age, Congestive heart failure, Hy... ORPHA:1830
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Atypical Werner Syndrome
Prominent superficial veins, Hypertriglyceridemia, Telangiectasia of the skin, Prematurely aged a... ORPHA:79474
Double Outlet Left Ventricle
Cyanosis, Tachypnea, Abnormal right ventricular function, Failure to thrive, Systolic heart murmur ORPHA:3427
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Atrial fibrill... ORPHA:273
Myasthenia Gravis
Raynaud phenomenon, Dyspnea, Acrocyanosis, Hepatitis ORPHA:589
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hypoventilation, Hyponatremia, Cyanosis, Short stature, Central hy... ORPHA:293987
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Incontinentia Pigmenti
Pallor, Erythema, Short stature, Retinal hemorrhage OMIM:308300
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Asthma, Abnormal respiratory ... ORPHA:330015
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Ataxia, Pulmonary embolism, Jaun... ORPHA:79282
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, I... OMIM:259900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ... OMIM:619879
Fanconi Anemia, Complementation Group E
Small for gestational age, Bruising susceptibility, Anemic pallor, Short stature OMIM:600901
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Hereditary Folate Malabsorption
Failure to thrive, Pallor ORPHA:90045
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu... ORPHA:2905
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Elevated circulating creatine kinase co... ORPHA:94093
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Short statur... ORPHA:324
Fanconi Anemia, Complementation Group A
Small for gestational age, Bruising susceptibility, Anemic pallor, Short stature OMIM:227650
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Hypokalemia, Pa... ORPHA:91347
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Growth delay, Hypoalbuminemia, Budd-Chiari syndrome, Hypoprotei... OMIM:226300
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum... OMIM:309000
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Pneumonia, Myocarditis, Dyspnea, Hyperkalemia, Hypertension, Pleural empyema, Hypoc... ORPHA:544482
Fanconi Anemia, Complementation Group C
Small for gestational age, Anemic pallor, Short stature, Intrauterine growth retardation, Bruisin... OMIM:227645
Superficial Siderosis
Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Unsteady gait, Dysmetria, Limb ataxia, Progre... ORPHA:247245
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Degcags Syndrome
Hepatomegaly, Tachycardia, Small for gestational age, Pneumonia, Asthma, Cholestasis, Hepatosplen... OMIM:619488
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Retinitis Pigmentosa 75
Pallor OMIM:617023
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Fucosidosis
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Acrocyanosis, Vascular skin abno... ORPHA:349
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Hypercalcemia, Neoplasm of the liver, Palpitations, Pallor, ... ORPHA:653
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cutis marmorata, Short stature, Raynaud phenomenon, Dry skin, Hepa... ORPHA:51
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor, Decreased serum iron OMIM:616959
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... ORPHA:394
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Short stature, Hypoammonemia, Respiratory insufficiency, Skin ulcer, Hypokalemia, H... ORPHA:534
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Glycogen Storage Disease Ic
Hepatomegaly, Spider hemangioma, Hyperlipidemia, Hypertension, Xanthelasma, Hyperuricemia, Hepato... OMIM:232240
Tarp Syndrome
Broad-based gait, Cyanosis, Apnea, Intrauterine growth retardation, Failure to thrive ORPHA:2886
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Failure to thrive, Hypertriglyceridem... OMIM:264090
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, Dyspnea, Jaundice, ... ORPHA:447
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Transient ischemic attack, Elevated alkaline phosphatase of bone ... ORPHA:51608
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Ataxia, Short s... ORPHA:3455
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma OMIM:143890
Diamond-Blackfan Anemia
Short stature, Small for gestational age, Growth delay, Pallor, Lethargy, Elevated red cell adeno... ORPHA:124
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Diamond-Blackfan Anemia 1
Short stature, Tricuspid stenosis, Congestive heart failure, Pallor, Intrauterine growth retardat... OMIM:105650
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Tachycardia, Tricuspid regurgitation, Respiratory failure req... ORPHA:99125
Pitt-Hopkins Syndrome
Failure to thrive, Ataxia, Postnatal growth retardation, Gait ataxia, Growth delay, Acrocyanosis,... ORPHA:2896
Fanconi Anemia, Complementation Group D2
Small for gestational age, Bruising susceptibility, Anemic pallor, Short stature OMIM:227646
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype... ORPHA:228116
Aromatase Deficiency