| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Failure to thrive, Small for gestational age, Slender build, Generalized lipodystrophy |
ORPHA:50811 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Generalized lipod... |
OMIM:612526 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90160 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Hepatic steatosis |
OMIM:613877 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... |
ORPHA:280356 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... |
OMIM:613913 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Lipodystrophy, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis, Failure to thrive |
OMIM:619858 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Lipodystrophy |
ORPHA:300536 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Lipase Deficiency, Combined |
|
Lipodystrophy, Pancreatitis |
OMIM:246650 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Lipoatrophy, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90159 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Pancreatitis, Loss of ... |
ORPHA:435651 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Abdominal obesity, Lipodystrophy |
OMIM:615980 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy |
ORPHA:79087 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... |
ORPHA:435660 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Congenital generalized lipodystrophy, Generalized lipodystrophy, Failu... |
OMIM:608154 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Increased intraabdominal fat, Lipodystrophy, Hepatic steatosis, Hepatomegaly |
ORPHA:79085 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Hepatic steatosis |
OMIM:615238 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Stiff Skin Syndrome |
|
Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Lipody... |
OMIM:615381 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Lipodystrophy, Splenomeg... |
ORPHA:2348 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity |
OMIM:620195 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Adipose tissue loss, Cirrhosis, Failure to thrive, Hepatic steatosis |
ORPHA:528 |
| Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy |
ORPHA:154 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Progressive loss of facial adipose tissue, ... |
OMIM:608709 |
| Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia |
ORPHA:157973 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, General... |
ORPHA:363400 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly |
ORPHA:1133 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Hepatic hemangioma |
ORPHA:141184 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619048 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Distal arthrogryposis, Decreased liver fun... |
ORPHA:42 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy |
ORPHA:1818 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Hepatocellular carcinoma, Lipodystrophy, Decreased body weight |
OMIM:616200 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Lipoatrophy |
ORPHA:261304 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hepatic failure |
OMIM:617872 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
| Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Obesity |
OMIM:615703 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Analbuminemia |
|
Lipodystrophy |
OMIM:616000 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased muscle lipid content, Hepatomegaly |
OMIM:610717 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Lipodystrophy |
OMIM:618048 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Pa... |
OMIM:617591 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Lack of facial sub... |
ORPHA:90156 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
ORPHA:280365 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
| Wolman Disease |
|
Splenomegaly, Hepatomegaly, Hepatic failure, Cachexia |
ORPHA:75233 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss |
ORPHA:83469 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis |
ORPHA:298 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Congenital Short Bowel Syndrome |
|
Lipoatrophy |
ORPHA:2301 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Hepatos... |
ORPHA:39812 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Umbilical hernia, Failure to thrive, Shagreen p... |
ORPHA:2963 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Cachexia |
ORPHA:85278 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Fa... |
OMIM:613327 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Splenomegaly, Pancreatit... |
ORPHA:79083 |
| Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Absence of subcutaneous fat |
OMIM:269880 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Atrophic scars, Flexion contracture, Lipodystrophy |
ORPHA:75496 |
| Alg3-Cdg |
|
Arthrogryposis multiplex congenita, Lipodystrophy, Decreased liver function |
ORPHA:79321 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss |
ORPHA:3163 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Truncal obesity, Lipodystrophy, Decreased body weight |
OMIM:270450 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| C3 Glomerulopathy |
|
Lipodystrophy |
ORPHA:329918 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98855 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Lipodystrophy, Failure to thrive in infancy |
OMIM:617099 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Majeed Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive |
ORPHA:77297 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Shagreen patch |
ORPHA:2617 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98863 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis |
OMIM:619183 |
| Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98853 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Failure to thrive, Lipodystrophy |
OMIM:219200 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:2930 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Fucosidosis |
|
Hepatomegaly, Failure to thrive, Lipoatrophy, Abnormality of the gallbladder |
ORPHA:349 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Acrogeria |
|
Lipoatrophy |
ORPHA:2500 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity |
ORPHA:86816 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia |
OMIM:618186 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Portal fibrosis,... |
ORPHA:369 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Hepatic failure, Cho... |
ORPHA:79303 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:608594 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly |
ORPHA:824 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Werner Syndrome |
|
Lipoatrophy, Slender build, Lipodystrophy, Chondrocalcinosis |
ORPHA:902 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Finger joint contracture |
OMIM:212112 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity |
OMIM:615996 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
| Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Hernia, Weight loss |
ORPHA:26790 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Lipodystrophy |
OMIM:618922 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:100024 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hy... |
OMIM:610965 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis |
ORPHA:977 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Failure to thrive, Lipodystrophy, Abnormal subcutaneous fat tissue distribution |
ORPHA:357074 |
| Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Generalized lipodystrophy, Panniculitis, Cirrhosis, Hepatic ste... |
ORPHA:79086 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... |
OMIM:619386 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Hepatic steatosis |
ORPHA:210548 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Poems Syndrome |
|
Lipodystrophy, Weight loss |
ORPHA:2905 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... |
OMIM:614300 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:42642 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... |
OMIM:617093 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Flexion contr... |
OMIM:608612 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati... |
ORPHA:71 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Weight loss |
ORPHA:545 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Knee flexion contracture, Hepatosplenomegaly, Hepati... |
ORPHA:79322 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| Stiff Skin Syndrome |
|
Lipoatrophy |
ORPHA:2833 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Hypersplenism, Microvesi... |
ORPHA:275761 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
| De Barsy Syndrome |
|
Umbilical hernia, Inguinal hernia, Failure to thrive, Lipodystrophy |
ORPHA:2962 |
| Becker Nevus Syndrome |
|
Lipoatrophy |
ORPHA:64755 |
| Keppen-Lubinsky Syndrome |
|
Lipodystrophy, Congenital generalized lipodystrophy, Flexion contracture, Failure to thrive, Loss... |
ORPHA:435628 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Incre... |
ORPHA:264580 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss |
ORPHA:86884 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam... |
ORPHA:101330 |
| H Syndrome |
|
Hepatosplenomegaly, Lipodystrophy, Hernia, Camptodactyly |
ORPHA:168569 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Whipple Disease |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:3452 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Failure to thrive, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Generalized lipody... |
OMIM:616914 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Lipodystrophy, Camptodactyly of f... |
OMIM:256040 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age |
ORPHA:293964 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:600649 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly |
OMIM:619013 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Weight loss... |
OMIM:619487 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Eosinophilic Fasciitis |
|
Fasciitis, Weight loss, Cellulitis |
ORPHA:3165 |
| Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Lipodystrophy, Periportal fibrosis, Hepatic cysts |
ORPHA:79328 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Lipodystrophy |
ORPHA:300751 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Flexion contracture, Camptodactyly, F... |
ORPHA:86309 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Keloids, Joint contracture, Flexion contracture of finger |
OMIM:601812 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... |
OMIM:614098 |
| Ane Syndrome |
|
Multiple joint contractures, Lipoatrophy |
ORPHA:157954 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatitis, Hepatic fibrosis, Hepatocellular carci... |
ORPHA:247585 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Hernia, Weight loss |
ORPHA:1842 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content |
OMIM:261750 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:99901 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decreased body weight, ... |
ORPHA:444490 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g... |
ORPHA:2959 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis |
OMIM:201475 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Increased intramyoc... |
ORPHA:98907 |
| Nephroblastoma |
|
Neoplasm of the liver, Weight loss |
ORPHA:654 |
| Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:391 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Seckel Syndrome |
|
Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Hepatic steatosis, Obesity |
ORPHA:254346 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Cachexia, Splenomegaly, Hepatitis |
ORPHA:37042 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Failure to thrive, Hepati... |
ORPHA:71212 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
| Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia |
ORPHA:3380 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Lipoma, Cachexia |
ORPHA:109 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy |
OMIM:614008 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss |
ORPHA:69077 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Flexi... |
OMIM:212065 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis |
ORPHA:52430 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:507 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis |
ORPHA:228305 |
| Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Peritonitis, Biliary tract abnormality, Hepatit... |
ORPHA:2552 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Liver abscess, Weight loss |
ORPHA:54251 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Inguinal hernia, Shoulder flexion contracture, Cachexia, Wrist flexion contractu... |
ORPHA:800 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
| Immunodeficiency 27A |
|
Splenomegaly, Hepatosplenomegaly, Weight loss |
OMIM:209950 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Truncal obesity, Hepatic s... |
OMIM:203800 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... |
ORPHA:2088 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Diffuse hepatic steatosis, Hepatomegaly, Failure to thrive, Decreased liver function |
ORPHA:436271 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... |
ORPHA:541423 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Failure to thri... |
OMIM:616263 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis... |
OMIM:617156 |
| X-Linked Agammaglobulinemia |
|
Weight loss, Failure to thrive, Hepatitis, Cellulitis |
ORPHA:47 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
| Encephalocraniocutaneous Lipomatosis |
|
Multiple lipomas, Lipodystrophy |
ORPHA:2396 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity |
ORPHA:412 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hepatic steatosis, Abdominal obesity, Dorsocervical fat pad, Increased body weight |
ORPHA:189427 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:212138 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Slender build |
ORPHA:1328 |
| Neonatal Marfan Syndrome |
|
Small for gestational age, Flexion contracture, Lipoatrophy |
ORPHA:284979 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice |
OMIM:231680 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Barber-Say Syndrome |
|
Lipodystrophy |
OMIM:209885 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Failure to thrive in infancy, Chronic hepatic failure, Cholestasis |
ORPHA:746 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Generalized lipodystrophy |
ORPHA:90154 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:3226 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma |
ORPHA:79076 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Obesity |
ORPHA:96168 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... |
OMIM:220110 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
| Atypical Werner Syndrome |
|
Lipoatrophy, Generalized lipodystrophy, Decreased body weight, Failure to thrive, Hepatic steatos... |
ORPHA:79474 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Macr... |
OMIM:619127 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Cachexia, Splen... |
ORPHA:191 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Small for gestational age, Slender build, Portal ... |
OMIM:613658 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Knee flexion contracture |
ORPHA:3208 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Cirrhosis, Hepa... |
ORPHA:465508 |
| Wrinkly Skin Syndrome |
|
Umbilical hernia, Inguinal hernia, Failure to thrive, Lipodystrophy |
ORPHA:2834 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Lipoatrophy |
ORPHA:276280 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Lipoatrophy |
ORPHA:363618 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Hepatosplenomegaly, Pann... |
ORPHA:51 |
| Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Cholelit... |
ORPHA:2072 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:348 |
| Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis |
ORPHA:47612 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:445038 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Increased intramyocellular lipi... |
ORPHA:17 |
| Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Decreased liver function |
ORPHA:98850 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Hepatic steatosis |
OMIM:616271 |
| Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... |
OMIM:124000 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Failure to thrive, Hepa... |
ORPHA:14 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, N... |
ORPHA:404454 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Failure to thrive, Lipoatrophy, Camptodac... |
ORPHA:3455 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Cholestasis, Weight loss |
ORPHA:95427 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea... |
OMIM:229600 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100080 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... |
ORPHA:247598 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
| Marfan Syndrome |
|
Inguinal hernia, Slender build, Cachexia |
ORPHA:558 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
| Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Hepatic steatosis, Obesity |
ORPHA:91 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Hepatomegaly, Flexion contracture, Macrovesicular hepatic steatosis |
OMIM:617303 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Abnormality of connective tissue, Weight loss |
ORPHA:79128 |
| Polymyositis |
|
Hepatomegaly, Chondrocalcinosis, Weight loss |
ORPHA:732 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
| Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Hepatosplenomegaly, Weight loss, Ganglios... |
ORPHA:354 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Small for gestational age, Flexion contracture,... |
OMIM:264090 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Sple... |
ORPHA:699 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Hepatitis, Elevated hepatic transaminase, Weight loss |
ORPHA:139402 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:619573 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hepatocellular adenoma, Increased hepatic glycogen content, Hepatocellular carcinom... |
ORPHA:79259 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi... |
OMIM:617253 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Bloom Syndrome |
|
Hepatic steatosis, Small for gestational age |
OMIM:210900 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification |
ORPHA:228308 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatic steatosis |
OMIM:615846 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss |
ORPHA:2126 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Failure to thrive, Biliary hyperpla... |
OMIM:619991 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Abnormal spleen physiology, Weight loss |
ORPHA:398063 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97278 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100082 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Flexi... |
OMIM:300868 |
| Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Stickler Syndrome |
|
Slender build, Abnormal dental enamel morphology, Cachexia |
ORPHA:828 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Weight loss |
ORPHA:97287 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
ORPHA:66634 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distr... |
ORPHA:744 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Weight loss |
ORPHA:67 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:615356 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Enamel hypoplasia, Failure to thrive, Weight loss |
OMIM:212750 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Pancreatitis, Weight loss |
ORPHA:370348 |
| Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Weight loss |
ORPHA:97289 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Hepatocell... |
ORPHA:144 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97283 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatosplenome... |
ORPHA:781 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Hepatocell... |
ORPHA:440437 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Hepatomegaly, Decreased liver function, Weight loss |
ORPHA:85450 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97261 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Overweight, Jaundice, Obesity, Decreased body weight, Failure to t... |
OMIM:619475 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97282 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Weight loss |
ORPHA:134 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:75565 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Abnormal subcutaneous ... |
ORPHA:79318 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Weight loss |
ORPHA:100075 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Flexion contracture, Hepatic steatosis |
OMIM:619321 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita,... |
ORPHA:99885 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss |
ORPHA:90362 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Cirrhosis, Failure to thrive, Hepatic stea... |
OMIM:270400 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Atypical... |
ORPHA:99413 |
| Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Atypical... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Atypical... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Atypical... |
ORPHA:99226 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Hepatitis, Weight loss |
ORPHA:199299 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
| Al Amyloidosis |
|
Hepatomegaly, Abnormality of the liver, Weight loss |
ORPHA:85443 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Abnormality of the spleen, Obesity, Abnormality of the liver, Annular pa... |
ORPHA:1606 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Zollinger-Ellison Syndrome |
|
Jaundice, Extrahepatic cholestasis, Weight loss, Multiple lipomas, Lipoma |
ORPHA:913 |
| Giant Cell Arteritis |
|
Hepatic failure, Weight loss |
ORPHA:397 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97280 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Hepatosplenomegaly, Flexion contracture, Enthesitis |
ORPHA:85408 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Portal hypertension, Flexi... |
OMIM:619503 |
| Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
| Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
| Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:98849 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Ogden Syndrome |
|
Inguinal hernia, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Mi... |
OMIM:300855 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Biliary cirrhosis, Increased body weight, Weight loss, Decreased body... |
ORPHA:2298 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Weight loss |
ORPHA:91139 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Lipoma, Pancreatitis, Chondrocalcinosis |
ORPHA:143 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Hepatic failure, Extrahepatic cholestasis, Weight loss |
ORPHA:100078 |
| Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Splenomegaly, Weight loss, Knee flexion contracture, Hepatosple... |
ORPHA:576 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Microvesicular hepatic steatosis, Increased hepatocel... |
OMIM:220111 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss |
ORPHA:36426 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss |
ORPHA:537 |
| Castleman Disease |
|
Jaundice, Weight loss |
ORPHA:160 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion... |
ORPHA:2020 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Cholelithiasis, Splenomegaly, Obesity, Umbilical hernia, Hepatic... |
OMIM:188400 |
| Immunodeficiency 31C |
|
Splenomegaly, Hepatomegaly, Weight loss |
OMIM:614162 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
| Thyrotoxic Periodic Paralysis |
|
Obesity, Increased intramyocellular lipid droplets, Weight loss |
ORPHA:79102 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Hypersplenism, Splenomegaly, Weight loss,... |
ORPHA:1304 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Reactive Arthritis |
|
Weight loss, Enthesitis |
ORPHA:29207 |
| Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Weight loss |
ORPHA:35687 |
| Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Weight loss |
ORPHA:79430 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
| Multiple Myeloma |
|
Splenomegaly, Weight loss |
ORPHA:29073 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
| Rat-Bite Fever |
|
Pancreatitis, Weight loss |
ORPHA:31205 |
| Nocardiosis |
|
Peritonitis, Weight loss, Liver abscess, Cellulitis |
ORPHA:31204 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
| Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff... |
OMIM:219800 |
| Fanconi Anemia |
|
Umbilical hernia, Abnormality of the liver, Weight loss |
ORPHA:84 |
| Dermatomyositis |
|
Weight loss, Chondrocalcinosis, Cellulitis |
ORPHA:221 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Weight loss |
ORPHA:60025 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
| Igg4-Related Kidney Disease |
|
Retroperitoneal fibrosis, Abnormal mesentery morphology, Weight loss, Sclerosing cholangitis, Cho... |
ORPHA:449395 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Weight loss |
ORPHA:48435 |
| Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:50918 |
| Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Hepatomegaly, Weight loss |
OMIM:181000 |
| Granulomatosis With Polyangiitis |
|
Pancreatitis, Weight loss |
ORPHA:900 |
| Sarcoidosis |
|
Hepatomegaly, Scarring, Portal hypertension, Weight loss, Abnormal liver parenchyma morphology, D... |
ORPHA:797 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Behçet Disease |
|
Splenomegaly, Pancreatitis, Weight loss |
ORPHA:117 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Multiple lipomas, Insulinoma, Weight loss |
ORPHA:652 |
| Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dorsocervical fat pad, Portal hypertension, Splenome... |
ORPHA:64 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Weight loss |
ORPHA:79078 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Flexion contracture, Weight loss |
ORPHA:99921 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:2388 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Dorsocervical fat pad, Pancreatoblastoma, Increased body weight, Weigh... |
ORPHA:99889 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Hepatitis, Weight loss |
OMIM:619381 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Absence of subcutaneous fat, Weight loss |
ORPHA:740 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Weight loss |
ORPHA:3385 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Weight loss |
ORPHA:91500 |
| Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis |
ORPHA:391665 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
