| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.6%) |
10532663 |
Tubulointerstitial renal failure in childhood leptospirosis. Vachvanichsanong P, Dissaneewate P, Mitarnun W. Pediatr Emerg Care. 1999;15(5):332-4. |
| Jaundice Hepatosplenomegaly Anemia Metabolic acidosis | ||
| Child Females Homo sapiens Leptospira Leptospirosis Male Nephritis, Interstitial Serotyping Thailand | ||
| 2 (58.3%) |
1440154 |
Surgical management of children with hemoglobinopathies. Ware RE, Filston HC. Surg Clin North Am. 1992;72(6):1223-36. |
| Cholelithiasis Anemia Acidosis Sickled erythrocytes | ||
| SCN2A | ||
| Anemia, Sickle Cell Cardiac Arrest Gall Bladder Diseases Homo sapiens Male Operative Surgical Procedures Respiratory Insufficiency | ||
| 3 (57.5%) |
28764232 |
Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant. Shekhda KM, Leuva AC, Mannari JG, Ponda AV, Amin A. J Clin Diagn Res. 2017;11(6):OD21-OD22. |
| Splenomegaly Pancytopenia Vitamin B12 deficiency | ||
| 4 (57.1%) |
19092326 |
Fever of unclear origin and cytopenia because of acute splenic sequestration in a young immunocompetent carrier of beta-globin mutation for Hb Valletta. Parrinello G, Torres D, Paterna S, Di Pasquale P, Licata G. Am J Med Sci. 2008;336(6):508-11. |
| Hepatosplenomegaly Splenomegaly Anemia Fever | ||
| c|SUB|A||C c|SUB|C||G | ||
| Abnormal Hemoglobins Adult Anemia Child Fever Hematological Disease Homo sapiens Immunocompetence Male Mutation Spleen beta-Globins | ||
| 5 (57.0%) |
15529816 |
[Homozygous hemoglobin-E (Hb-EE) disease]. Amendola G, Danise P, Di Palma A, Franzese M, Avino D, D'Arco AM. Pediatr Med Chir. 2004;26(1):65-7. |
| Hematuria Pallor Splenomegaly Hypochromic anemia | ||
| HBA2 | ||
| Females Hemoglobin E Hemoglobinopathies Homo sapiens Homozygote | ||
| 6 (56.8%) |
8752983 |
[Homozygous beta(+)-thalassemia due to -31 A to G mutation]. Komeno T, Itoh T, Shinagawa Y, Hattori Y, Ohba Y, Nagasawa T, Abe T. Rinsho Ketsueki. 1996;37(6):506-10. |
| Splenomegaly Anemia Poikilocytosis | ||
| HBA2 HBB | ||
| Adult Females Homo sapiens Homozygote Mutation beta Thalassemia | ||
| 6 (56.8%) |
2434529 |
Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia. Steinberg MH, Adams JG 3rd, Morrison WT, Pullen DJ, Abney R, Ibrahim A, Rieder RF. J Clin Invest. 1987;79(3):826-32. |
| Splenomegaly Microcytic anemia Poikilocytosis | ||
| rs33949486 rs34868397 | ||
| Abnormal Hemoglobins Child Electron Microscopy Erythrocyte Indices Females Fetal Hemoglobin Heterozygote Homo sapiens Peptide Hydrolases Phenotype Reticulocytes Thalassemia | ||
| 8 (56.4%) |
27080228 (4832447) |
Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children. Yus Cebrian F, Recasens Flores Mdel V, Izquierdo Alvarez S, Parra Salinas I, Rodriguez-Vigil Iturrate C. BMC Res Notes. 2016;9:220. |
| Jaundice Splenomegaly Microcytic anemia | ||
| Rs1609812 c|SUB|G|-110|A c|SUB|G|93-21|A | ||
| Bone Marrow Transplantation Females Gene Duplication Genetic Predisposition to Disease Heterozygote Homo sapiens Infant Male Multigene Family Mutation Portugal Single Nucleotide Polymorphism alpha-Globins beta Thalassemia | ||
| 8 (56.4%) |
22521023 |
[Heterozygous beta thalassemia with triplication of the alpha globin gene]. Constanco MC, Rocha P, Bento C, Silva HM. Acta Med Port. 2011;24(4):633-6. |
| Jaundice Splenomegaly Anemia | ||
| c|SUB|G|IVSI-110|A | ||
| Females Heterozygote Homo sapiens Young Adult alpha-Globins beta Thalassemia | ||
| 8 (56.4%) |
15977037 |
A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia. Ropero P, Villegas A, Martinez M, Ataulfo Gonzalez Fernandez F, Benavente C, Mateo M. Ann Hematol. 2005;84(9):584-7. |
| Jaundice Splenomegaly Anemia | ||
| Abnormal Hemoglobins DNA Mutational Analysis Exons Genes, Dominant Globin Heme Homo sapiens Inclusion Bodies Male Middle Aged Peptide Hydrolases Phenotype Protein Structure, Secondary Sequence Deletion beta Thalassemia |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000924 | Abnormality of the skeletal system | Very frequent (99-80%) |
| HP:0000980 | Pallor | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0001903 | Anemia | Very frequent (99-80%) |
| HP:0001935 | Microcytic anemia | Very frequent (99-80%) |
| HP:0011902 | Abnormal hemoglobin | Very frequent (99-80%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Frequent (79-30%) |
| HP:0000737 | Irritability | Frequent (79-30%) |
| HP:0000929 | Abnormal skull morphology | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0004349 | Reduced bone mineral density | Frequent (79-30%) |
| HP:0004370 | Abnormality of temperature regulation | Frequent (79-30%) |
| HP:0011031 | Abnormality of iron homeostasis | Frequent (79-30%) |
| HP:0001081 | Cholelithiasis | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0004936 | Venous thrombosis | Occasional (29-5%) |
| HP:0012115 | Hepatitis | Occasional (29-5%) |
| HP:0200042 | Skin ulcer | Occasional (29-5%) |
Total: 111
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001903 | Anemia | 27 |
| HP:0001978 | Extramedullary hematopoiesis | 24 |
| HP:0002176 | Spinal cord compression | 10 |
| HP:0000822 | Hypertension | 5 |
| HP:0001744 | Splenomegaly | 5 |
| HP:0001945 | Fever | 5 |
| HP:0000939 | Osteoporosis | 4 |
| HP:0001878 | Hemolytic anemia | 4 |
| HP:0001891 | Iron deficiency anemia | 4 |
| HP:0011902 | Abnormal hemoglobin | 4 |
| HP:0000952 | Jaundice | 3 |
| HP:0001907 | Thromboembolism | 3 |
| HP:0001931 | Hypochromic anemia | 3 |
| HP:0001971 | Hypersplenism | 3 |
| HP:0002027 | Abdominal pain | 3 |
| HP:0025615 | Abscess | 3 |
| HP:0032231 | Hypochromia | 3 |
| HP:0000124 | Renal tubular dysfunction | 2 |
| HP:0000819 | Diabetes mellitus | 2 |
| HP:0000821 | Hypothyroidism | 2 |
| HP:0000829 | Hypoparathyroidism | 2 |
| HP:0001082 | Cholecystitis | 2 |
| HP:0001635 | Congestive heart failure | 2 |
| HP:0001746 | Asplenia | 2 |
| HP:0001873 | Thrombocytopenia | 2 |
| HP:0002090 | Pneumonia | 2 |
| HP:0002099 | Asthma | 2 |
| HP:0002385 | Paraparesis | 2 |
| HP:0002576 | Intussusception | 2 |
| HP:0002754 | Osteomyelitis | 2 |
| HP:0010550 | Paraplegia | 2 |
| HP:0020082 | Heinz bodies | 2 |
| HP:0100806 | Sepsis | 2 |
| HP:0200123 | Chronic hepatitis | 2 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000505 | Visual impairment | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000529 | Progressive visual loss | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000771 | Gynecomastia | 1 |
| HP:0000789 | Infertility | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001370 | Rheumatoid arthritis | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001701 | Pericarditis | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0001889 | Megaloblastic anemia | 1 |
| HP:0001894 | Thrombocytosis | 1 |
| HP:0001900 | Increased hemoglobin | 1 |
| HP:0001923 | Reticulocytosis | 1 |
| HP:0001927 | Acanthocytosis | 1 |
| HP:0001935 | Microcytic anemia | 1 |
| HP:0002014 | Diarrhea | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002150 | Hypercalciuria | 1 |
| HP:0002155 | Hypertriglyceridemia | 1 |
| HP:0002170 | Intracranial hemorrhage | 1 |
| HP:0002204 | Pulmonary embolism | 1 |
| HP:0002273 | Tetraparesis | 1 |
| HP:0002313 | Spastic paraparesis | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002326 | Transient ischemic attack | 1 |
| HP:0002488 | Acute leukemia | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002716 | Lymphadenopathy | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0002897 | Parathyroid adenoma | 1 |
| HP:0002917 | Hypomagnesemia | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0003076 | Glycosuria | 1 |
| HP:0004387 | Enterocolitis | 1 |
| HP:0004447 | Poikilocytosis | 1 |
| HP:0004840 | Hypochromic microcytic anemia | 1 |
| HP:0004870 | Chronic hemolytic anemia | 1 |
| HP:0004942 | Aortic aneurysm | 1 |
| HP:0005567 | Renal magnesium wasting | 1 |
| HP:0006559 | Hepatic calcification | 1 |
| HP:0006562 | Viral hepatitis | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010934 | Xanthinuria | 1 |
| HP:0010980 | Hyperlipoproteinemia | 1 |
| HP:0011273 | Anisocytosis | 1 |
| HP:0011672 | Cardiac myxoma | 1 |
| HP:0012089 | Arteritis | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0012151 | Hemothorax | 1 |
| HP:0012215 | Testicular microlithiasis | 1 |
| HP:0012852 | Hepatic bridging fibrosis | 1 |
| HP:0025143 | Chills | 1 |
| HP:0030248 | Mesenteric venous thrombosis | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0032155 | Abdominal cramps | 1 |
| HP:0100008 | Schwannoma | 1 |
| HP:0100646 | Thyroiditis | 1 |
| HP:0100724 | Hypercoagulability | 1 |
| HP:0100739 | Bulimia | 1 |
| HP:0100753 | Schizophrenia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|