Barth Syndrome |
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Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
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 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Hsd10 Mitochondrial Disease |
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Choreoathetosis, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Shwachman-Diamond Syndrome 1 |
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Myocardial necrosis, Exocrine pancreatic insufficiency |
OMIM:260400 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... |
ORPHA:263297 |
Ectodermal Dysplasia With Adrenal Cyst |
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Hypoplastic nipples, Breast hypoplasia, Hypohidrosis |
OMIM:129550 |
Spastic Paraplegia Type 7 |
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Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number |
ORPHA:352470 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial palsy, Tremor, Myo... |
OMIM:619424 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... |
OMIM:602541 |
Barth Syndrome |
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Dilated cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, Endocardial fibroel... |
OMIM:302060 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Facial palsy, Cerebral edema |
ORPHA:68 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... |
ORPHA:352447 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Decreased activity of mitochondr... |
OMIM:615578 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Skeletal muscle atrophy, Abnormal mitochondrial shape, Patent ductus arteriosus, Flexion contract... |
ORPHA:17 |
Cardiomyopathy, Dilated, 2D |
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Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology, Generalized amyotrophy |
ORPHA:275872 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Tremor, Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber dia... |
ORPHA:397744 |
Mitochondrial Phosphate Carrier Deficiency |
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Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Adams-Oliver Syndrome 5 |
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Right atrial enlargement, Pulmonic stenosis, Patent foramen ovale, Dystrophic toenail, Right vent... |
OMIM:616028 |
Congenital Gerbode Defect |
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Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... |
ORPHA:99095 |
Familial Isolated Restrictive Cardiomyopathy |
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Left atrial enlargement, Right atrial enlargement, Peripheral edema, Interstitial cardiac fibrosi... |
ORPHA:75249 |
Cardiomyopathy, Familial Restrictive, 3 |
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Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement |
OMIM:612422 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin... |
OMIM:618250 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram... |
ORPHA:439 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... |
OMIM:619518 |
Congenital Tricuspid Valve Dysplasia |
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Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Cirrhotic Cardiomyopathy |
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Left atrial enlargement, Cardiomegaly, Right atrial enlargement, Peripheral edema, Left ventricul... |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement |
OMIM:617047 |
Dystonia-Aphonia Syndrome |
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Oromandibular dystonia, Macroglossia, Generalized dystonia, Abnormal mitochondrial shape |
ORPHA:412217 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
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Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse |
ORPHA:555877 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Nestor-Guillermo Progeria Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Sparse eyebrow, Flexion c... |
OMIM:614008 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Increased variability in muscle fiber diameter, Mitochondrial swelling |
OMIM:615595 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Atrial Septal Defect, Ostium Primum Type |
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Left atrial enlargement, Right ventricular dilatation, Peripheral edema, Left ventricular hypertr... |
ORPHA:99106 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Pleural effusion, Right atrial enlargement, Mitral valve prolapse |
OMIM:620233 |
Fumarase Deficiency |
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Ascites, Perimembranous ventricular septal defect, Mitochondrial swelling, Polyhydramnios |
OMIM:606812 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Cardiomegaly, Right atrial enlargement, Peripheral edema, Pleural effusion, Atrial septal dilatat... |
ORPHA:1677 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Atrial Septal Defect, Coronary Sinus Type |
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Right ventricular dilatation, Anomalous pulmonary venous return, Unroofed coronary sinus, Right a... |
ORPHA:99104 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Atrial Septal Defect, Ostium Secundum Type |
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Right ventricular dilatation, Abnormal mitral valve morphology, Pedal edema, Right atrial enlarge... |
ORPHA:99103 |
Chronic Thromboembolic Pulmonary Hypertension |
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Right ventricular dilatation, Edema, Right atrial enlargement |
ORPHA:70591 |
Immunodeficiency 66 |
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OMIM:618847 |