Kaposi Sarcoma, Susceptibility To |
|
Edema, Hypermelanotic macule |
OMIM:148000 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Albinism, Hypopigmentation of the skin |
ORPHA:2786 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614495 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... |
OMIM:214700 |
Mastocytosis, Cutaneous |
|
Edema, Hypermelanotic macule, Erythema |
OMIM:154800 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Edema of the dorsum of hands, Lack of skin elasticity, Edema of the do... |
ORPHA:281127 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614496 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
X-Linked Sideroblastic Anemia |
|
Pallor, Hyperpigmentation of the skin |
ORPHA:75563 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism |
OMIM:613090 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614492 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
Dermatitis, Atopic |
|
Pallor, Facial erythema, Dry skin |
OMIM:603165 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Congenital Heart Block |
|
Peripheral edema, Hydrops fetalis, Pleural effusion, Pericardial effusion, Intrauterine growth re... |
ORPHA:60041 |
Kennedy Disease |
|
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... |
ORPHA:481 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased ser... |
OMIM:601678 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism |
OMIM:602522 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Bartter Syndrome Type 4 |
|
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... |
ORPHA:89938 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased ser... |
OMIM:241200 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema, Cerebral edema |
ORPHA:439218 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:618773 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
American Trypanosomiasis |
|
Edema, Pallor, Periorbital edema |
ORPHA:3386 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Cafe-au-lait spot, Pallor |
OMIM:615234 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Testicular atrophy, Diabetes mellitus, Increased circulating iron concent... |
OMIM:235200 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Primary Myelofibrosis |
|
Petechiae, Purpura, Ecchymosis, Pallor |
ORPHA:824 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Fanconi Anemia, Complementation Group I |
|
Cafe-au-lait spot, Pallor, Intrauterine growth retardation |
OMIM:609053 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Edema, Anemic pallor |
ORPHA:329971 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... |
OMIM:265300 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Beta-Ketothiolase Deficiency |
|
Edema, Pallor, Dehydration |
ORPHA:134 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Waldenström Macroglobulinemia |
|
Purpura, Pleural effusion, Periorbital edema, Pallor, Pedal edema |
ORPHA:33226 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Cafe-au-lait spot, Pallor |
ORPHA:300298 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Erectile dysfunction, Decreased libido, Infertility, Testicular ... |
ORPHA:465508 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Sepsis In Premature Infants |
|
Edema, Petechiae, Pallor, Purpura |
ORPHA:90051 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Dehydration |
OMIM:246450 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Pallor, Dehydration |
ORPHA:20 |
Dominant Beta-Thalassemia |
|
Pallor, Skin ulcer, Hyperpigmentation of the skin |
ORPHA:231226 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Fumarase Deficiency |
|
Pallor, Polyhydramnios, Ascites |
OMIM:606812 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Pallor |
OMIM:301310 |
Beta-Thalassemia Major |
|
Pallor, Skin ulcer, Hyperpigmentation of the skin |
ORPHA:231214 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Pearson Marrow-Pancreas Syndrome |
|
Pallor, Hydrops fetalis, Dehydration, Erythema |
OMIM:557000 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Pallor, Erythema |
OMIM:308300 |
Fanconi Anemia, Complementation Group C |
|
Cafe-au-lait spot, Anemic pallor, Intrauterine growth retardation, Hyperpigmentation of the skin |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
|
Cafe-au-lait spot, Anemic pallor, Hyperpigmentation of the skin |
OMIM:600901 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Fanconi Anemia, Complementation Group A |
|
Cafe-au-lait spot, Abnormality of skin pigmentation, Anemic pallor |
OMIM:227650 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Pallor, Pleural empyema, Generalized edema |
ORPHA:544482 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Sheehan Syndrome |
|
Pallor, Dry skin |
ORPHA:91355 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Pallor, Pleural effusion, Joint swelling |
ORPHA:3260 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Pallor |
ORPHA:137675 |
Degcags Syndrome |
|
Polyhydramnios, Hypopigmentation of the skin, Abnormality of skin pigmentation, Intrauterine grow... |
OMIM:619488 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor |
OMIM:277400 |
Esophageal Atresia |
|
Pallor, Polyhydramnios |
ORPHA:1199 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
Fanconi Anemia, Complementation Group D2 |
|
Cafe-au-lait spot, Abnormality of skin pigmentation, Anemic pallor |
OMIM:227646 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia |
OMIM:300322 |
Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
Von Hippel-Lindau Disease |
|
Pallor, Macular edema |
ORPHA:892 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Diamond-Blackfan Anemia |
|
Pallor, Nonimmune hydrops fetalis |
ORPHA:124 |
Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Pallor, Spina bifida occulta |
OMIM:105650 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor |
ORPHA:667 |
Steinert Myotonic Dystrophy |
|
Abnormality of thyroid physiology, Hyperinsulinemia, Hypercholesterolemia, Decreased response to ... |
ORPHA:273 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells |
ORPHA:3063 |
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 |
ORPHA:99125 |