Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Inte... |
OMIM:616053 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... |
OMIM:618378 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ... |
OMIM:613561 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Increased mitochondrial number, ST segment elevation, Ventricular tachyc... |
ORPHA:263297 |
Evans Syndrome |
|
Pallor, Syncope, Epistaxis, Petechiae |
ORPHA:1959 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... |
ORPHA:3099 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Pallor |
ORPHA:163596 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy, Decreased mitochondrial number |
ORPHA:352447 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hypertrop... |
OMIM:618250 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Pallor, Atrial septal defect, Intrauterine growth retardation, Patent ... |
OMIM:609053 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Primary Myelofibrosis |
|
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor |
ORPHA:3226 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... |
OMIM:615578 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Pallor |
ORPHA:75564 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Pa... |
OMIM:600462 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Dilated cardiomyopathy |
OMIM:602541 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Pallor |
ORPHA:98870 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activity of mitochondrial compl... |
ORPHA:17 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:231222 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Pallor, Arrhythmia |
ORPHA:231226 |
Sepsis In Premature Infants |
|
Tachycardia, Pallor, Bradycardia, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
Fumarase Deficiency |
|
Mitochondrial swelling, Perimembranous ventricular septal defect, Decreased fumarate hydratase ac... |
OMIM:606812 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Refractory Anemia With Excess Blasts |
|
Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Pallor, Arrhythmia |
ORPHA:231214 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Pallor, Hypotension |
ORPHA:134 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Pallor, Atrial septal de... |
OMIM:105650 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Pallor, Hypotension |
ORPHA:98849 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor |
ORPHA:329971 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Cryptorchidism, Abnormal heart morphology, Deficient excision of UV-induced pyrimi... |
OMIM:600901 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Macroorchidism, postpubertal, Pallor, Hypotension |
ORPHA:91349 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Cryptorchidism, Abnormal heart morphology, Deficient excision of UV-induced pyrimi... |
OMIM:227650 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Anemic pallor, Cryptorchidism, Deficient excision of UV-induced pyrimi... |
OMIM:227645 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Mepan Syndrome |
|
Axial dystonia, Limb dystonia, Ataxia, Hemidystonia, Gait disturbance, Dystonia, Craniofacial dys... |
ORPHA:508093 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Cryptorchidism, Patent ductus arteriosus, Abnormal heart morphology, Deficient exc... |
OMIM:227646 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pallor, Pulmoni... |
OMIM:619488 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Blepharospasm, Athetosis, Gait disturbance, Dystonia, Loss of ambulation, Craniofacial dy... |
OMIM:617282 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Pallor, Abnormal pulmonary valve morphology |
ORPHA:667 |
Diamond-Blackfan Anemia |
|
Atrial septal defect, Ventricular septal defect, Pallor, Abnormal heart morphology |
ORPHA:124 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |