Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... |
OMIM:616199 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... |
OMIM:617030 |
Nonaka Myopathy |
|
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... |
OMIM:605820 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... |
ORPHA:611 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... |
OMIM:618655 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... |
OMIM:618848 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Tubular Aggregate Myopathy |
|
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... |
ORPHA:2593 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... |
ORPHA:34516 |
Myopathy, Sarcoplasmic Body |
|
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... |
OMIM:620286 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... |
OMIM:600334 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... |
OMIM:615424 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy |
ORPHA:270 |
Spinal Muscular Atrophy, Type Iv |
|
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... |
OMIM:271150 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... |
ORPHA:206549 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:618992 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly |
ORPHA:75563 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Dermatitis, Atopic |
|
Pallor, Facial erythema, Dry skin |
OMIM:603165 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Hepatomegaly, Splenomegaly, Syndactyly, Pallor |
OMIM:615631 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:613561 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... |
OMIM:123320 |
Hemoglobin D Disease |
|
Pallor, Splenomegaly |
ORPHA:90039 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Beta-Thalassemia |
|
Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis |
ORPHA:848 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Intrauterine growth retardation, Pallor, Ch... |
OMIM:266200 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276575 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Evans Syndrome |
|
Petechiae, Pallor, Jaundice |
ORPHA:1959 |
Myelofibrosis |
|
Splenomegaly, Purpura, Hepatomegaly, Pallor |
OMIM:254450 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Leishmaniasis |
|
Skin ulcer, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, ... |
ORPHA:507 |
Primary Myelofibrosis |
|
Purpura, Hepatomegaly, Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatosplenomega... |
ORPHA:824 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Intrahepatic bile duct dilatation, Hepatic cysts, Pallor, Pancreatic cysts |
OMIM:616307 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
Elliptocytosis 1 |
|
Pallor, Jaundice, Splenomegaly |
OMIM:611804 |
Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Hepatoce... |
ORPHA:231222 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis |
OMIM:194380 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated hepatic iron concentration, Pallor, Hepatomegaly, Splenomegaly |
OMIM:615234 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Jaundice, Hepatomegaly |
OMIM:613839 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital finger flexion contractures, Adducted thumb, Pallor, Tapered finger, Talipes equinovarus |
ORPHA:536516 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly |
ORPHA:90037 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3226 |
Dominant Beta-Thalassemia |
|
Cirrhosis, Jaundice, Skin ulcer, Genu valgum, Hepatocellular carcinoma, Hepatic fibrosis, Bowing ... |
ORPHA:231226 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... |
ORPHA:263455 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:75564 |
Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
American Trypanosomiasis |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Jaundice, Splenomegaly |
ORPHA:90033 |
Beta-Thalassemia Major |
|
Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Genu valgum, Hepatocellular carcinoma, Hepatic fib... |
ORPHA:231214 |
Hereditary Spherocytosis |
|
Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor |
ORPHA:822 |
Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Absent thumb, Short thumb, Intrauterine growth retardation, Short 1st m... |
OMIM:609053 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Letterer-Siwe Disease |
|
Pallor, Jaundice, Hepatosplenomegaly |
OMIM:246400 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Prolonged neonatal jaundice, Pallor, Jaundice, Splenomegaly |
OMIM:300908 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
ORPHA:348 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic iron concentration, Pallor, Elevated circulating hepatic transaminase concentrat... |
ORPHA:300298 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Sepsis In Premature Infants |
|
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Pallor |
ORPHA:90051 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Elevated circulating hepatic transaminase concentration |
ORPHA:98870 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly |
ORPHA:331206 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circu... |
OMIM:246450 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... |
ORPHA:20 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Ex... |
OMIM:557000 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Purpura, Hepatomegaly, Pallor |
ORPHA:33226 |
Beta-Ketothiolase Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:134 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Pallor |
OMIM:301310 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Fumarase Deficiency |
|
Pallor, Intrahepatic cholestasis, Hepatic failure |
OMIM:606812 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit... |
ORPHA:3260 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor, Hepatomegaly |
OMIM:277400 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Sheehan Syndrome |
|
Pallor, Dry skin |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Degcags Syndrome |
|
Polydactyly, Hepatomegaly, Genu valgum, Talipes equinovarus, Cholestasis, Abnormal spleen morphol... |
OMIM:619488 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Diamond-Blackfan Anemia 1 |
|
Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Partial duplication of thumb... |
OMIM:105650 |
Fanconi Anemia, Complementation Group C |
|
Absent radius, Anemic pallor, Complete duplication of thumb phalanx, Absent thumb, Short thumb, I... |
OMIM:227645 |
Incontinentia Pigmenti |
|
Pallor, Erythema |
OMIM:308300 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Complete duplication of thumb phalanx, Absent thumb, Short thumb, Absent radius |
OMIM:600901 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Hepatomegaly, Bowing of the long bones, Splenomegaly, Pallor |
ORPHA:667 |
Histiocytoid Cardiomyopathy |
|
Pallor, Hepatomegaly |
ORPHA:137675 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemic pallor, Aplasia of the 1st metacarpal, Complete duplication of thumb pha... |
OMIM:227646 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Complete duplication of thumb phalanx, Absent thumb, Short thumb, Absent radius |
OMIM:227650 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Esophageal Atresia |
|
Pallor, Clinodactyly |
ORPHA:1199 |
Von Hippel-Lindau Disease |
|
Pallor, Neoplasm of the pancreas, Pancreatic cysts, Pancreatic islet cell adenoma |
ORPHA:892 |
Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Neoplasm of the liver |
ORPHA:653 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
Diamond-Blackfan Anemia |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Absent thumb, Short thumb, Pallor |
ORPHA:124 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor, Hepatomegaly |
ORPHA:99125 |