Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Kruppel-like factor 15
Synonyms:
KKLF,  CKLF,  1810013I09Rik,  hlb444

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 Klf15 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Klf15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Takayasu Arteritis
Arteritis OMIM:207600
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia, Carotid artery occlusion OMIM:252350
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Temporal Arteritis
Retinal arteritis OMIM:187360
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Hypoglycemia, 3-hydroxydicarboxylic aciduria, Congestive heart fai... OMIM:619355
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Atheroscl... ORPHA:494424
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Cardiomyopathy OMIM:609016
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Foam cells with lamellar inclusion bodies, Spleno... OMIM:607616
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Proteinuria, Hepatocellular ... ORPHA:369
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Premature pubarche, Hypothyroidism, Rhabdomyolysis, Hypoglycemia, ... OMIM:616878
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis, Hypoglycemia,... OMIM:261680
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lacticaciduria, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Ketonuria, Tricusp... OMIM:619167
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Patent ductus arteriosus, Posterior cerebral a... OMIM:132900
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells, Normochromic anemia, Hemolytic anemia OMIM:245900
Glycogen Storage Disease Iii
Ventricular hypertrophy, Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomeg... OMIM:232400
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Reduced muscle carnitine level, Endocardial fibroelastosis, Hepati... OMIM:212140
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Myocarditis ORPHA:2724
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, A... OMIM:619386
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, H... ORPHA:2022
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hypoglycemia, Decreased liver function, Failure to thrive, 3-Methylglutaconic aci... ORPHA:67048
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hypotension, Nonketotic hypoglycemia, 3-Methylglutaric aciduria, K... ORPHA:20
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Nephrocalcinosis, Left ventricular hyper... OMIM:616833
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Chilblain Lupus 2
Vasculitis OMIM:614415
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardio... OMIM:617713
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration o... OMIM:301054
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Arrhythmia, Hypoglycemia, Hepatomegaly, Organic aciduria, C... ORPHA:35
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypertension, Hypop... ORPHA:90065
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glucose intolerance, Ins... OMIM:617253
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ketotic hypoglycemia, Hepatic steatosis, Failure... ORPHA:26792
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hyperglycinuria, Failure to thrive, Skeletal ... OMIM:210210
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... OMIM:610717
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Supraventricular arrhythmia, Distal lower limb muscle weakness, Diabetes me... ORPHA:320360
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Hypoglycemia, Prolonged QT i... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614582
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Glycosuria, Type I diabetes mellitus, Small for gestational age, Ketonuria OMIM:618857
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, EMG: myopathic abnormalities, Compensated hypothyroidism, Arrhythmia, Elev... ORPHA:480864
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Combined Oxidative Phosphorylation Deficiency 30
Elevated hepatic transaminase, Decreased liver function, Left ventricular hypertrophy, Failure to... OMIM:616974
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Decreased liver function, Hypertrophic... OMIM:246900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:276580
Short Stature Due To Ghsr Deficiency
Decreased body weight, Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Patent ductus arteriosus, Hernia, Aortic a... ORPHA:98892
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Renal tubular dysfunction, Abnormal heart morphology, Hypovol... ORPHA:99885
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria, Hypoglycemia OMIM:617950
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Sudden cardiac... ORPHA:156
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Stomatitis, Thrombocytopenia, Granulocytopenia, Ence... OMIM:233600
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Abnormal aortic valve morpholog... ORPHA:3287
Tangier Disease
Coronary artery atherosclerosis, Atherosclerosis, Hepatomegaly, Myocardial infarction, Distal amy... OMIM:205400
Glutaric Acidemia I
Glutaric aciduria, Hypoglycemia, Hepatomegaly, Failure to thrive, Ketonuria OMIM:231670
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart mo... OMIM:618250
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:324575
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Decreas... ORPHA:42
Lcat Deficiency
Hypertension, Hemolytic anemia, Atherosclerosis, Splenomegaly ORPHA:650
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, Cardiomyopathy OMIM:613657
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the upper urinary tract ORPHA:1705
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Umbilical hernia, Pulmonic stenosis, Inguinal hernia, Hernia, Ao... ORPHA:90348
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Abnormal heart morphology, Subdural hemorrhage, Hypoglycemia, Glomerulopa... ORPHA:79282
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Mahvash Disease
Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased glucagon level... OMIM:619290
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Beta-Ketothiolase Deficiency
Hypotension, Ketonuria, Hypoglycemia, Hypertension, Hepatomegaly, Weight loss, Hyperglycemia ORPHA:134
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Ketonuria, Hypoglycemia OMIM:210200
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Abnormal cardiac ventricular function, Hypoglycemia, Hepatomegaly,... ORPHA:2394
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, Hypertrophic cardiomyopathy OMIM:619053
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Lipo... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614702
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Hypoketotic hypoglycemia, Chronic hepatic failure, Lower limb muscle weakness, Tricus... ORPHA:746
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:615355
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Cirrhosis, Maternal diabetes, Insulin resistance, Coronary artery at... ORPHA:79083
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Failure to thrive, Renal tubular dysfu... OMIM:606528
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Ketotic hypoglycemia, Dicarboxylic aciduria ORPHA:79159
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Hypertension, Abnormal renal ... OMIM:616733
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Cor... OMIM:608600
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67046
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Facial hypotonia, Lower limb muscle weakness, Left ventricular outf... ORPHA:365
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Scorpion Envenomation
Cardiogenic shock, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Bun... ORPHA:466677
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia ORPHA:261102
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hypothyroidism, H... ORPHA:602
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Cigarette-paper scars, Mucoid extracellular matrix accumulation, Hernia, Aortic dissection, Aorti... OMIM:130090
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Fish-Eye Disease
Angina pectoris, Atherosclerosis, Splenomegaly ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Failure to thrive, Nephrol... OMIM:618329
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... OMIM:614300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA d... OMIM:231530
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... OMIM:616166
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Skeletal muscle hypertrophy, L... ORPHA:90970
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Ventricular septal hypertrophy, Skeletal muscle atrophy, I... ORPHA:370
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Arrhythmia, Elevated hepatic transaminase, Red-brown urine, Hypoketotic ... ORPHA:228305
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Neonatal hypoglycemia, Elevated hepatic transaminase, Hypotension, Hepat... OMIM:212138
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Elevated hemoglobin A1c, Hypertension, Coronary artery atheroscleros... OMIM:618620
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia, Abnormal heart morphology ORPHA:231147
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increa... OMIM:600649
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Atrial flutter, Elevated circulating creatin... ORPHA:439232
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Congestive heart f... OMIM:611126
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, ... ORPHA:264580
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Renal artery atheroscle... ORPHA:565612
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Radiation Proctitis
Hematochezia, Abnormal vascular morphology, Arteritis, Rectal abscess ORPHA:70475
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomeg... OMIM:255120
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:615395
Shashi-Pena Syndrome
Atrial septal defect, Hypoglycemia OMIM:617190
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hypoglycemia OMIM:615751
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hypertyrosinemi... ORPHA:247598
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Primary Erythromelalgia
Vasculitis, Leukemia ORPHA:90026
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Hypercalciuria, Hepatic failure, Elevated circulating aspartate amino... ORPHA:2088
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Arrhythmia, Scapular winging, Elevated hepatic transaminase, Increased intramyoce... ORPHA:26791
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, 3-Methylglutaconic aciduria, Rhabdomyolysis, Hypoglycemia OMIM:618120
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, ... ORPHA:280365
Ethanolaminosis
Cardiomegaly OMIM:227150
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertrophy of left ... OMIM:239850
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Elevated hepatic tra... ORPHA:71212
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Weight l... ORPHA:3208
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Patent ductus arteriosus, Skeletal muscle atrophy, P... ORPHA:17
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Elevated circulating alanine aminotransferase concentration, Incr... ORPHA:308552
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiac myxoma, Vascular dilatation, Cholestasis, Pulmonic valve myxoma,... ORPHA:615
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... OMIM:619040
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia, Abnormal localization of ... ORPHA:446
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia, Methylmalonic aciduria, Dicarboxylic aciduria, Failu... ORPHA:289504
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis OMIM:614380
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Elevated circulating creatinine concentration, Recurrent urinary tract infections, Chr... ORPHA:730
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Hepatic stea... ORPHA:528
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Smal... OMIM:615160
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Angina pectoris, Precocious atherosclerosis, Myocardia... OMIM:176670
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal renal morphology, Ventricular septal defect, Abn... ORPHA:477817
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesicoureteral reflu... ORPHA:1166
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Muscular dystrophy, Hypoglycemia, Hypertriglyceridemia, Adrenal insuff... OMIM:307030
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Abnormal aortic morphology, Hypertension, Renal insufficiency, Cardiomyopathy ORPHA:3222
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Arterial tortuosity, Aortic regurgitation, Abnormal heart morphology, At... ORPHA:284984
Panbronchiolitis, Diffuse
Foam cells, Bronchiectasis OMIM:604809
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Muscle fiber atrophy, Wrist drop, Decreased muscle mass, Aortic dis... ORPHA:1900
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Myocarditis, Hepatic granulomatosis, Osteomyelitis, Endocar... ORPHA:533
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Organic aciduria, Myopathy, Fatty replacement of skeletal muscle, C... OMIM:255100
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Rhabdomyolysis, Hypog... OMIM:614921
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Nocturia, Shoulder girdle m... ORPHA:254892
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Glucose intolerance, Elevated hepatic transaminase, Hepatocellular carcino... OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Increased glucagon level, Glucagonoma, Abnormal biliary tract morphology, Neoplas... ORPHA:438274
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria, Left ventricular noncomp... OMIM:248360
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Methylmalonic aciduria, Failure to thrive, Decreased methylmalonyl-CoA mutase activ... OMIM:251110
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Aortic regurgitation, Pulmonary insufficiency, Abnormal hea... ORPHA:230851
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Hsd10 Disease, Infantile Type
Hypoglycemia, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Abnormality of ... ORPHA:391428
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Urinary excre... OMIM:256550
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Methylmalonic aciduria, Failure to thrive, Decreased methylmalonyl-CoA mutase activ... OMIM:251100
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... OMIM:616564
Hsd10 Mitochondrial Disease
Hypoglycemia, Hypertrophic cardiomyopathy OMIM:300438
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Hypertension, Glomerulopathy, Congestive heart failure, Type II diabetes... ORPHA:225
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypogl... ORPHA:99901
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Hypoglycemia OMIM:614741
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Camptodactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitra... OMIM:613795
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... OMIM:300148
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Cerebellar hemorrhage, Hypoglycemia, Hepatomegaly, Hypergly... OMIM:606054
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Abnormality of the kidney, Biventricular hypertrophy, Coarctatio... ORPHA:101028
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonke... OMIM:201475
Aicardi-Goutières Syndrome
Calcification of the aorta, Moyamoya phenomenon, Elevated hepatic transaminase, Hypothyroidism, P... ORPHA:51
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Gm1-Gangliosidosis, Type Iii
Foam cells OMIM:230650
Giant Cell Arteritis
Renal insufficiency, Arrhythmia, Hematuria, Pericarditis, Aortic dissection, Epistaxis, Weight lo... ORPHA:397
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Umbilical hernia, Failure to thrive, Ketonuria, Large for gestational age OMIM:614520
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Red-brown urine, Cystic renal dysplasia, Hypoketotic hypoglycemia, Hepatic steatosis,... ORPHA:228308
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double ... OMIM:618164
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Myoglobinuria, Rhabdomyolysi... OMIM:609015
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Rhabdomyolysis, Aminoaciduria, H... OMIM:124000
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscl... ORPHA:399103
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Arterial Tortuosity Syndrome
Hiatus hernia, Abnormal carotid artery morphology, Aortic aneurysm, Femoral hernia, Hypertension,... ORPHA:3342
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Dilatation of the sinus of Valsalva, Oliguria, Heart murmur, Congestive hea... ORPHA:1054
Brucellosis
Pericarditis, Pneumonia, Anemia, Hypersplenism, Leukopenia, Anterior uveitis, Transient ischemic ... ORPHA:1304
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy OMIM:616483
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Lacticaciduria, Elevated circulati... OMIM:245400
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hyperechogenic kidneys, Vent... OMIM:618719
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypercholesterolemia, Ventricular hypertrophy, Intracr... ORPHA:363618
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Failure to thrive in infancy, Hydronephrosis, Left ventricular hypertrophy, Hyposp... OMIM:611209
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Malignant Atrophic Papulosis
Peritonitis, Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Telangiectasia of the skin,... ORPHA:679
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Iritis, Rheumatoid arthritis, Hypertension, Vascular dilatation OMIM:108050
Hsd10 Disease, Neonatal Type
Abnormal enzyme/coenzyme activity, Abnormal concentration of acylcarnitine in the urine, Abnormal... ORPHA:391457
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hemochromatosis, Type 4
Impaired glucose tolerance, Arrhythmia, Glucose intolerance, Cardiomyopathy OMIM:606069
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Hypertension, Cerebral artery atherosclerosis, Anemia, Arterial ... ORPHA:1192
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Hypoglycemia OMIM:618958
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Ketonuria, Distal amyotrophy ORPHA:1399
Autism, Susceptibility To, 3
Ketonuria, Increased serum serotonin OMIM:608049
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Red-brown urine, Cystic renal dysplasia, Hypoketotic hypoglycemia, Reduced carnitine ... ORPHA:157
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Decreased methionine synthase activity, Inguinal hernia, Methylmalonic acid... OMIM:614857
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Neonatal hypoglycemia, Decreased body weight, Hypoglycemia, Small for gestationa... ORPHA:231140
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... OMIM:615382
Ornithine Transcarbamylase Deficiency
Hepatic failure, Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Failure to thrive OMIM:251120
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Arteriosclerosis, Severe Juvenile
Calcification of the aorta, Arteriosclerosis, Central retinal vessel vascular tortuosity, Hyperte... OMIM:208060
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature coronary artery atherosclerosis, Coronary artery aneurysm, ... ORPHA:391665
2P21 Microdeletion Syndrome
Hypoglycemia, Cystinuria, Failure to thrive, Hypogonadism, Nephrolithiasis ORPHA:163693
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Long-chain dicarboxylic aciduria, Elevated hepati... OMIM:608836
Cap Myopathy
Abnormal muscle fiber morphology, Sinus tachycardia, Lower limb muscle weakness, Reduced systolic... ORPHA:171881
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic aneurysm, Aortic regurgitation OMIM:154750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hypertyrosinemia, Enlarged... OMIM:276700
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Failure to thriv... ORPHA:5
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Telangiectasia, Hashimoto thyroiditis, Hypoglycemia, Th... ORPHA:109
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Elevated systolic blood pr... ORPHA:275555
Congenital Contractural Arachnodactyly
Slender build, Camptodactyly of finger, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:115
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Arrhythmia, Elevated hepatic transaminase, Hypotension, Hypoketotic hypogly... ORPHA:159
Dysbetalipoproteinemia
Accelerated atherosclerosis, Premature coronary artery atherosclerosis, Angina pectoris, Aortic a... ORPHA:412
Igg4-Related Aortitis
Abnormal aortic arch morphology, Weight loss, Thoracic aortic aneurysm, Abnormal common carotid a... ORPHA:449400
Fabry Disease
Arrhythmia, Angina pectoris, Urinary mulberry cells, Hypertension, Lipiduria, Myocardial infarcti... OMIM:301500
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Facial palsy, Failure to thrive, Myopathy, Ethylmalonic aciduria, Cardiomyop... OMIM:201470
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Biliary tract abnormality, Hypertension, Hepatic fibrosis, Left v... OMIM:209900
Familial Partial Lipodystrophy, Köbberling Type
Pancreatitis, Hypertension, Coronary artery atherosclerosis ORPHA:79084
Alstrom Syndrome
Renal insufficiency, Hyperinsulinemia, Elevated hepatic transaminase, Chronic active hepatitis, H... OMIM:203800
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Patent ductus... OMIM:606003
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Decreased muscle mass, Hypothyroidism, Hepatocellular carcinoma, Elevated ... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia, Cardiomyopathy OMIM:618839
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Ty... ORPHA:169186
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Cong... OMIM:606519
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia, Hypertrophic cardio... OMIM:618835
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertension, Abnormality of circulating cortisol level, Decreased circulati... ORPHA:320
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Renal ... ORPHA:2516
Hypoplastic Left Heart Syndrome
Atrial septal defect, Maternal diabetes, Mitral atresia, Patent ductus arteriosus, Hypoplastic ao... ORPHA:2248
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Alport Syndrome
Hematuria, IgA deposition in the glomerulus, Renal insufficiency, Renal glomerular foam cells, Re... ORPHA:63
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Richards-Rundle Syndrome
Hypogonadism, Absence of secondary sex characteristics, Ketonuria, Skeletal muscle atrophy OMIM:245100
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Hardikar Syndrome
Elevated hepatic transaminase, Ventricular septal defect, Hydroureter, Patent ductus arteriosus, ... OMIM:612726
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Aminoaciduri... OMIM:249270
Fragile X Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm ORPHA:908
Monosomy 18Q
Slender build, Left aortic arch with right descending aorta and right ductus arteriosus, Pulmonar... ORPHA:1600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Arrhythmia, Dilated cardiomyopathy, Elevated hepatic transaminase, Ventricu... ORPHA:26793
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Ischemic stroke, Abnormal proportion of naive CD4 T ... ORPHA:1830
Niemann-Pick Disease, Type C1
Foam cells, Bone-marrow foam cells, Sea-blue histiocytosis, Foam cells in visceral organs and CNS... OMIM:257220
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Fabry Disease
Conjunctival telangiectasia, Hematuria, Abnormal endocardium morphology, Delayed puberty, Renal i... ORPHA:324
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal cardio... ORPHA:79086
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Atherosclerosis, Pulmonary arterial hypertension, Right bundle b... OMIM:614008
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Orthostatic hypotensi... OMIM:606721
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Cardiomyopathy ORPHA:254857
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemi... OMIM:201450
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Arteritis, Scleritis, Glomerulonephritis, Tubuloin... ORPHA:93126
Acatalasemia
Severe periodontitis, Arteriosclerosis, Microcytic anemia ORPHA:926
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia, Failure to thrive in infancy ORPHA:6
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, H... OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Schnitzler Syndrome
Skin rash, Leukocytosis, Anemia, Splenomegaly, Vasculitis, Arthritis ORPHA:37748
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Camptodactyly, Patent ductus arteriosus, Penoscrotal transposition, Pulmon... OMIM:619148
Mpi-Cdg
Hepatic failure, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Leigh Syndrome
Lacticaciduria, Renal tubular dysfunction, Complex organic aciduria, Ventricular septal defect, G... ORPHA:506
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Fulminant hepatitis... OMIM:308240
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Weight loss, Abnormal cardiac septum morpho... ORPHA:251071
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Tangier Disease
Facial diplegia, Accelerated atherosclerosis, Coronary artery stenosis, Hypocholesterolemia, Hype... ORPHA:31150
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Igg4-Related Kidney Disease
Prostatitis, Arteritis, Pericarditis, Interstitial pneumonitis, Lymphadenitis, Urinary bladder in... ORPHA:449395
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concentration, Impaired corti... ORPHA:361
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Arrhythmia, Restricted neck movement due to contractures, Scapular w... OMIM:181350
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Mitral va... OMIM:619127
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Failure to t... OMIM:302060
Alg1-Cdg
Hypogonadism, Nephropathy, Hepatic failure, Hypertrophic cardiomyopathy ORPHA:79327
Niemann-Pick Disease, Type C2
Foam cells, Bone-marrow foam cells, Sea-blue histiocytosis, Foam cells in visceral organs and CNS... OMIM:607625
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, Failure to thrive, Myop... OMIM:618234
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Hyperinsulinemic hyp... ORPHA:35878
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased facial adipose tissue, Increased adipose tissue around the neck, ... OMIM:151660
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hepatomegaly, Splenomegaly, Hypogonadism, Cardiomyopathy OMIM:608540
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hypothyroidism, Hypertension, Aortic root aneurysm, Mitral valve prolapse, Diabetes mellitus, Hyp... ORPHA:449291
Hemochromatosis Type 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Hypogonadism,... ORPHA:79230
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Decreased response to ... OMIM:601808
Buerger Disease
Vasculitis ORPHA:36258
Glycogen Storage Disease Ia
Xanthelasma, Decreased muscle mass, Elevated hepatic transaminase, Enlarged kidney, Focal segment... OMIM:232200
Classic Galactosemia
Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Hypoglycemia, Hepato... ORPHA:79239
Polymyositis
Abnormal renal tubule morphology, Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gas... ORPHA:732
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... OMIM:613426
Classical-Like Ehlers-Danlos Syndrome Type 1
Precocious atherosclerosis, Arrhythmia, Gastrointestinal hemorrhage ORPHA:230839
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Camptodactyly of finger, Hypoglycemia, Hypogonadotropic hypogonadism ORPHA:48431
Dpm3-Cdg
Elevated hepatic transaminase, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles... ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyo... OMIM:612937
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Elevated hepatic transaminase, Abnormal heart morphology, Hypoglycemia, Hepat... OMIM:608779
Alkaptonuria
Thickened Achilles tendon, Mitral valve calcification, Elevated urinary homogentisic acid, Corona... OMIM:203500
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Nephrocalcinosis, Hyperphosphaturia, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Diabe... OMIM:616026
Muscular Dystrophy, Cardiac Type
Carnosinuria, Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Calcium nephrolithiasis, Renal insufficiency, Hyp... ORPHA:99877
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated hepatic transaminase, Hypothyro... ORPHA:66634
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Mitral regurgitatio... OMIM:617168
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atheroscle... ORPHA:209902
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypoglycemia, Hypertension, Hypospadias, Adrenal hyperplasia, Adrenogenital s... OMIM:201910
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Generalized aminoaciduria, Hepatic steatosis, Glutaric aciduria, Proximal t... OMIM:231680
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, Panc... OMIM:602782
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Neonatal hypoglycemia, Cardiomyopathy, Splenomegaly OMIM:619046
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Renal hypoplasia/aplasia, Ureteral duplica... ORPHA:1926
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly, Hypoglycemia OMIM:618838
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Aminoaciduria OMIM:250620
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid in urine, 3-Methylglutaric ... OMIM:246450
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face, Obesity ORPHA:93952
Temtamy Syndrome
Aortic aneurysm, Aortic regurgitation OMIM:218340
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Micropenis, Biliary atresia, Patent ductus arteriosus, Pitu... ORPHA:96149
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Hypertrophic cardiomyopathy OMIM:617184
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Supraventricular tachycardia with an accessory connection mediated pathway,... ORPHA:404443
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity, Delayed puberty, Hypoplasia of penis, Abnorm... ORPHA:633
Bardet-Biedl Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Diabetes melli... OMIM:615981
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Abnormality of the hepatic vasculature, Punctate vasculitis skin lesi... ORPHA:247691
Cranioectodermal Dysplasia 2
Renal insufficiency, Atrial septal defect, Elevated hepatic transaminase, Polysplenia, Biliary ci... OMIM:613610
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hy... ORPHA:348
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Aortic root aneurysm, Inguinal hernia, Congenital diaphragmatic hernia, Car... OMIM:245600
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Aortic root aneurysm, Persistent... OMIM:609008
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:268500
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Aortic dissection, Bicuspid aortic valve, Inguinal hernia... OMIM:614816
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Atrial septal defect, Ventricular septal defect, Camptodactyly, Aortic root an... OMIM:301039
Hemochromatosis, Type 2A
Cirrhosis, Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopat... OMIM:602390
Attrv30M Amyloidosis
Abnormal renal physiology, Arrhythmia, Weight loss, Nephropathy, Atrioventricular block, Cardiome... ORPHA:85447
Schimke Immunoosseous Dysplasia
Lymphopenia, Arteriosclerosis, Neutropenia, Hypertension, Thrombocytopenia, Abnormal T cell morph... OMIM:242900
Insulinoma
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm... ORPHA:97279
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Hyperphosphaturia, Proteinuria, Increased hepatocellul... OMIM:220110
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Abnormal aortic valve morphology, Um... ORPHA:2990
Contractural Arachnodactyly, Congenital
Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defect, Camptoda... OMIM:121050
Hereditary Pulmonary Alveolar Proteinosis
Foam cells, Acute infectious pneumonia, Tachycardia ORPHA:264675
Pyruvate Carboxylase Deficiency
Hepatomegaly, Proximal renal tubular acidosis, Hypoglycemia OMIM:266150
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Hypertrophic cardiomyopathy OMIM:618241
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Kabuki Syndrome 2
Atrial septal defect, Neonatal hypoglycemia, Decreased body weight, Pulmonic stenosis, Coarctatio... OMIM:300867
Rin2 Syndrome
Hypergonadotropic hypogonadism, Aortic aneurysm, Umbilical hernia ORPHA:217335
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism, 3-Methyl... ORPHA:445038
Zimmermann-Laband Syndrome 1
Long penis, Patent ductus arteriosus, Umbilical hernia, Hepatomegaly, Splenomegaly, Aortic root a... OMIM:135500
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Chordee, Flexion contracture, Failure to thrive in infancy, Delayed puberty... OMIM:618891
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Decreas... OMIM:615474
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Adrenal i... OMIM:617575
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging... ORPHA:171439
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Flynn-Aird Syndrome
Atherosclerosis ORPHA:2047
Methimazole Embryofetopathy