Myopathy, Distal, Tateyama Type |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:614321 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Congenital Myopathy 5 With Cardiomyopathy |
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Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Rhabdomyolysis, Susceptibility To, 1 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... |
OMIM:608423 |
Spinal Muscular Atrophy, Type Iv |
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Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Hypertriglyceridemia, Transient Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
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Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Elevated cir... |
OMIM:255160 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
OMIM:232400 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Myasthenic Syndrome, Congenital, 14 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Combined Oxidative Phosphorylation Deficiency 16 |
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Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Myopathy, Centronuclear, 4 |
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Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... |
OMIM:614807 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
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Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Mildly elevated creatine kin... |
OMIM:618400 |
Congenital Myopathy 18 |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Tubular Aggregate Myopathy |
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Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Nonaka Myopathy |
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Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:620138 |
Neutral Lipid Storage Disease With Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... |
OMIM:617072 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... |
ORPHA:369 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Myopathy, Scapulohumeroperoneal |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Splenoportal Vascular Anomalies |
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Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis |
OMIM:271500 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
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Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b... |
OMIM:616719 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
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Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Welander Distal Myopathy |
|
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab... |
OMIM:618484 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Calf muscle hypertrophy, Hypertension, Hepatic fibrosis, Hepatic steatosis |
ORPHA:280356 |
Patent Ductus Venosus |
|
Congenital portosystemic venous shunt, Hyperammonemia, Hypergalactosemia, Decreased liver functio... |
OMIM:601466 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... |
ORPHA:446 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Cardiomyopathy, Increased variability in muscle fiber... |
ORPHA:401768 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ... |
ORPHA:171445 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Elevated circ... |
OMIM:160500 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ventricular sep... |
OMIM:613759 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration... |
OMIM:201475 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... |
ORPHA:486815 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb ... |
OMIM:500002 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... |
OMIM:278000 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Generalized limb muscle atrophy, Hepatosplenomegaly, Hepatic fibrosis, Dis... |
ORPHA:466794 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Dilated cardio... |
OMIM:612937 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Ragged-red muscle fibers, Proximal muscle weakness in lower limbs, Facial palsy, Elevated circula... |
OMIM:616209 |
King-Denborough Syndrome |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:619542 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... |
OMIM:618955 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:617258 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:611615 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... |
OMIM:619518 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... |
OMIM:500009 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph... |
ORPHA:263494 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card... |
OMIM:606069 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... |
ORPHA:266 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Lower limb muscle we... |
OMIM:615980 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hepatic steatosis, Myopathy |
ORPHA:26792 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Tachyca... |
OMIM:613327 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
ORPHA:228305 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... |
ORPHA:488650 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Nephronophthisis 16 |
|
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi... |
OMIM:615382 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... |
OMIM:616828 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Mildly eleva... |
ORPHA:399086 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Flexion contracture, ... |
OMIM:300718 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Cryptorchidi... |
ORPHA:169189 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... |
ORPHA:42 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:79319 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... |
ORPHA:276435 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
OMIM:212138 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... |
OMIM:615415 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Elevated circulating alanine aminotransferase concentrat... |
OMIM:618805 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... |
OMIM:614300 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... |
ORPHA:98911 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Abnormal cir... |
ORPHA:369840 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva... |
ORPHA:264580 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:248800 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Myopathy, Myofibrillar, 2 |
|
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest... |
ORPHA:52430 |
Lethal Congenital Contracture Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:615368 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia, Limb hypertonia |
OMIM:615918 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... |
OMIM:609452 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Hypertension, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Hypertension |
ORPHA:79084 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... |
OMIM:606003 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva... |
ORPHA:79240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s... |
ORPHA:79083 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... |
OMIM:615895 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly |
OMIM:619858 |
Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Mitral valve pro... |
ORPHA:597 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Hypertension |
ORPHA:3156 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Elevated circulating ... |
ORPHA:99901 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... |
OMIM:300559 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic fai... |
OMIM:615630 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertensio... |
OMIM:619487 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hypertension, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... |
OMIM:620265 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hepatic failure |
OMIM:602579 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... |
OMIM:300972 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle fiber size, Cong... |
ORPHA:2348 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Hepatic fibrosis, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
ORPHA:48818 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Myopathy, Hypertension, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Hepatosplenomegaly, H... |
OMIM:619013 |
Acquired Partial Lipodystrophy |
|
Myopathy, Hepatic steatosis |
ORPHA:79087 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... |
OMIM:167320 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Sternocleidomastoid amyotrophy, Thenar mu... |
OMIM:256030 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Low plasma citrulline, Elevated circulating alanine aminotransferase conc... |
OMIM:261680 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Atrial ... |
OMIM:615996 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic fa... |
ORPHA:186 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Skeletal muscle hypertrophy, Macrog... |
ORPHA:528 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... |
OMIM:619424 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Hep... |
OMIM:216360 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr... |
OMIM:619484 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis |
OMIM:608709 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, Cr... |
OMIM:615381 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Abnormal heart morphology, Decreased liver function, Hypertrophic cardi... |
ORPHA:70472 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, D... |
ORPHA:231226 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating... |
ORPHA:435660 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... |
OMIM:300280 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... |
OMIM:263200 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Cardio... |
ORPHA:98907 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal... |
ORPHA:14 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... |
ORPHA:75840 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Generalized amyotrop... |
ORPHA:171 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... |
OMIM:261750 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Cryptorchidism |
ORPHA:2377 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Congenital Macroglossia |
|
Macroglossia, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Dila... |
OMIM:602541 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic... |
ORPHA:435651 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hepatic fibrosis, Hypertension, Cryptorchidism |
ORPHA:110 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... |
OMIM:619574 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... |
ORPHA:615 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Splenomegal... |
ORPHA:231214 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... |
OMIM:608836 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pericardial effusion, Flexion contract... |
OMIM:212065 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Abnormal c... |
ORPHA:79086 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:263210 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... |
OMIM:619377 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Abnormality of the pancreas, Splen... |
OMIM:222470 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, S... |
ORPHA:746 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia, Cirrh... |
OMIM:604367 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hy... |
OMIM:619064 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent... |
ORPHA:439 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis |
OMIM:246200 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, EMG: myopathic abnormalities, Myopathy, Hypo... |
ORPHA:71 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Generalized w... |
ORPHA:353327 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Myopathy |
OMIM:275630 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Ragged-red muscle fibers, Abnormality of th... |
ORPHA:298 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Cholangitis, Portal hypertension, ... |
ORPHA:731 |
Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Impaired myocardial contractility, Increa... |
ORPHA:681 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pu... |
ORPHA:555874 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Hepatocellular carc... |
ORPHA:465508 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie... |
ORPHA:57 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
ORPHA:84064 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ... |
ORPHA:565612 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal atrioventri... |
ORPHA:280365 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly |
OMIM:269920 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating c... |
ORPHA:610 |
Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja... |
ORPHA:333 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Ragged-red mu... |
ORPHA:352447 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Cryptorchidism, Hyperlipidemia, Mitral regurgita... |
ORPHA:254346 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Dilat... |
OMIM:615084 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Skeletal muscle... |
OMIM:616263 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability, Telangiectasia |
OMIM:181750 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Cyanosis, Mitral regurgitation, Hepatic fibrosis, Single ventricle |
OMIM:619879 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... |
OMIM:611126 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged... |
OMIM:258450 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Myopathy, Cardiomyopathy, Decreased liver function, Hepatic steatosis |
OMIM:614922 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate amin... |
OMIM:256810 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Diaphragmatic eventration, Bilateral crypto... |
ORPHA:66634 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... |
OMIM:619170 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myocardial infarction, Mitral valve prolapse, Hyperhomocystinemia, Hypermethioninemia, Hepatic st... |
OMIM:236200 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
Mednik Syndrome |
|
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... |
OMIM:609313 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... |
OMIM:208500 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:300536 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
ORPHA:308552 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, R... |
OMIM:124000 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Elevated circulating cre... |
ORPHA:268 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Hepatic fibrosis |
OMIM:613989 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hyperuricemia, Hyperalaninemia, Hepatic... |
ORPHA:348 |
Adrenomyodystrophy |
|
Myopathy, Hepatic steatosis |
ORPHA:977 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Skeletal muscle atrophy, Abn... |
ORPHA:17 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis |
ORPHA:210548 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Microvesicular h... |
OMIM:619418 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Enlarged kidney |
OMIM:200995 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Hypertension, Hepatic fibrosis, Left ventricular hypertrophy, Decrease... |
OMIM:209900 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Flexion contracture, Macroglossia, Hypoalbu... |
OMIM:617303 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... |
OMIM:619051 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Macronodula... |
OMIM:620005 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver... |
OMIM:618329 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis |
OMIM:614091 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca... |
OMIM:614702 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... |
OMIM:210900 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Hyperlipidemia, Jaundice, Hepatospl... |
ORPHA:444490 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Elevated circulating alpha-fetopro... |
OMIM:615273 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... |
OMIM:231680 |
Arima Syndrome |
|
Hepatomegaly, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Monosomy 13Q34 |
|
Hypercalcemia, Epistaxis, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis |
ORPHA:96168 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... |
OMIM:261740 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Hypocalcemia, Elevated hep... |
OMIM:619991 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... |
OMIM:266500 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Diffuse hepatic steatosis, Hyp... |
ORPHA:436271 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Elevated circulating crea... |
ORPHA:206572 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hepatic cysts, Hyp... |
ORPHA:79328 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Joubert Syndrome 1 |
|
Macroglossia, Hepatic fibrosis |
OMIM:213300 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... |
OMIM:261515 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Atrial... |
OMIM:263520 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cardiomyopathy, Hepatic steatosis |
ORPHA:445038 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Cryptorchidism, Abnormal heart morphology, Camptodactyly of toe... |
OMIM:175700 |
Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Hepatic fibrosis, ... |
OMIM:218330 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Hypertension, ... |
OMIM:603903 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... |
OMIM:618652 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Acrocyanosis |
ORPHA:349 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Abnormal heart morphology, Hypertension, Hepatic fibrosis, Hepatic cysts |
OMIM:311200 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Abnormality of the sp... |
ORPHA:2072 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Supraventri... |
ORPHA:2959 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,... |
ORPHA:699 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate... |
ORPHA:20 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Jaundice, Bicarbonaturi... |
OMIM:229600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Increased intramyocellular l... |
OMIM:220110 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia |
OMIM:210200 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Increased circulating ferritin concentration, V... |
OMIM:615846 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Hepatocellular adenoma, Hypertensi... |
ORPHA:79259 |
3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Flexion contracture, Hepatic steatosis |
OMIM:616271 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating creatine kinase concent... |
OMIM:164310 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Periportal fibrosis, Patent foramen ovale |
OMIM:269860 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hypertension, Hyperlipidemia, Hepatic steatosis, Proximal amyotrophy |
ORPHA:189427 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Abnormal hemidiaphragm morphology, Atrial fi... |
ORPHA:980 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99228 |
Monosomy X |
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Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99226 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Flexion contracture of finger, Ventricular septal defect, Camptodactyly of finger, ... |
OMIM:602782 |
Thyrotoxic Periodic Paralysis |
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Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo... |
ORPHA:79102 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu... |
ORPHA:365 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Tendon xanthomatosi... |
ORPHA:391665 |
Craniofaciofrontodigital Syndrome |
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Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... |
ORPHA:3427 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:243800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Nodular re... |
ORPHA:404454 |
Pseudo-Torch Syndrome 3 |
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Increased circulating ferritin concentration, Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, S... |
ORPHA:564 |
Ogden Syndrome |
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Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated hepatic transaminase, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, U... |
OMIM:613658 |
Histiocytoid Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Cyanosis, Ventricular septal defect... |
ORPHA:137675 |
Cantu Syndrome |
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Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Tr... |
OMIM:619127 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Aromatase Deficiency |
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Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hyperlipidemia, Hepati... |
ORPHA:91 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... |
OMIM:620306 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Hypertension, Cholestatic ... |
OMIM:270400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Hip contracture, Microvesicular hepatic steatosis, Flexion contracture, Elbow flexi... |
OMIM:300868 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Alpha-N-Acetylgalactosaminidase Deficiency |
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Cardiomegaly |
ORPHA:3137 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Familial Aortic Dissection |
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Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
1P36 Deletion Syndrome |
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Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the spleen, Cryptorchidi... |
ORPHA:1606 |
Mogs-Cdg |
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Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... |
ORPHA:79330 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Mucolipidosis Ii Alpha/Beta |
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Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Diastasis recti, Cardiom... |
OMIM:252500 |
Atypical Werner Syndrome |
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Skeletal muscle atrophy, Hypertriglyceridemia, Telangiectasia of the skin, Aortic valve calcifica... |
ORPHA:79474 |
Beck-Fahrner Syndrome |
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Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita,... |
OMIM:608013 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp... |
OMIM:618143 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Aortic regurgitation, Torticollis, Bicuspid aortic valve, Ventricu... |
OMIM:619475 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Flexion contracture, Knee flexion contracture, Hypocalcemia, Diaphragmatic eventration, Hepatic s... |
OMIM:619503 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Alström Syndrome |
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Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hyperte... |
ORPHA:64 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Bicuspid aortic valve, Mitral atresia, Microvesicular hepatic steatosis, Aortic valve atresia, Hy... |
OMIM:220111 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Azotemia, Flexion contracture, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopat... |
OMIM:130650 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Perica... |
ORPHA:79318 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:3384 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Bohring-Opitz Syndrome |
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Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... |
ORPHA:581 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly... |
ORPHA:116 |
Cantú Syndrome |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Aicardi-Goutières Syndrome |
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Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cardiomegaly, Raynaud pheno... |
ORPHA:51 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Macroglossia |
ORPHA:96191 |
Congenital Tracheomalacia |
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Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abn... |
ORPHA:95430 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Camptodactyly of finger, Cryptorchidism, Congenital malformation of the lef... |
ORPHA:3455 |
Digeorge Syndrome |
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Ventricular septal defect, Splenomegaly, Hydrocele testis, Hypocalcemia, Cholelithiasis, Truncus ... |
OMIM:188400 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Left ventricular systolic dysfuncti... |
ORPHA:51608 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Williams Syndrome |
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Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:904 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Congenital hepatic fibrosis, Cryptorchidism |
ORPHA:93271 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Cardiomyopath... |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Combined Oxidative Phosphorylation Deficiency 32 |
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Joint contracture |
OMIM:617664 |