Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
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 |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Syndactyly, Splenomegaly, Jaundice, Pallor |
OMIM:615631 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor |
OMIM:613561 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Intrauterine growth retardation, Cho... |
OMIM:266200 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:163596 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Myopathic Ehlers-Danlos Syndrome |
|
Tapered finger, Talipes equinovarus, Pallor, Congenital finger flexion contractures, Adducted thumb |
ORPHA:536516 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor |
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 |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3226 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, H... |
ORPHA:231226 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
Beta-Thalassemia Major |
|
Hepatomegaly, Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepato... |
ORPHA:231214 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:822 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Intrauterine growth retardation, Sho... |
OMIM:609053 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura |
ORPHA:90051 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Pallor |
ORPHA:98870 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, 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 |
|
Erythema, Pallor |
ORPHA:3099 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Pallor, Purpura |
ORPHA:33226 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:134 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Swelling of proximal interphalangeal joints, Cholangitis, Splenome... |
ORPHA:3260 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Degcags Syndrome |
|
Hepatomegaly, Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cholestasis, He... |
OMIM:619488 |
Diamond-Blackfan Anemia 1 |
|
Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the radius, Pallor... |
OMIM:105650 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Intrauterine growth retardation, Complet... |
OMIM:227645 |
Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Splenomegaly, Pallor, Abnormal metaphysis morphology |
ORPHA:667 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx |
OMIM:600901 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial dupli... |
OMIM:227646 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx |
OMIM:227650 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
Esophageal Atresia |
|
Clinodactyly, Pallor |
ORPHA:1199 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
Diamond-Blackfan Anemia |
|
Absent thumb, Short thumb, Partial duplication of thumb phalanx, Pallor, Triphalangeal thumb |
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 |
|
Hepatomegaly, Pallor |
ORPHA:99125 |