| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (33.4%) |
2787138 |
Angioid streaks associated with abetalipoproteinemia. Dieckert JP, White M, Christmann L, Lambert HM. Ann Ophthalmol. 1989;21(5):173-5, 179. |
| Acanthocytosis | ||
| Abetalipoproteinemia Acanthocytes Adult Angioid Streaks Fluorescein Angiography Homo sapiens Male Nyctalopia Retinitis Pigmentosa Scotoma Visual Acuity Visual Fields | ||
| 22 (32.9%) |
22870600 |
Co-inheritance of compound heterozygous Hb Constant Spring and a single -alpha(3.7) gene deletion with heterozygous deltabeta thalassaemia: a diagnostic challenge. Azma RZ, Othman A, Azman N, Alauddin H, Ithnin A, Yusof N, Razak NF, Sardi NH, Hussin NH. Malays J Pathol. 2012;34(1):57-62. |
| Hepatosplenomegaly Fever | ||
| HBA2 | ||
| Abnormal Hemoglobins Adult Electrophoresis, Capillary Females Gene Deletion Genotype Heterozygote Homo sapiens Male Sibling Young Adult alpha-Globins beta Thalassemia delta-Thalassemia | ||
| 23 (32.0%) |
8774559 |
Osteochondroma in a patient with juvenile ankylosing spondylitis associated with idiopathic thrombocytopenic purpura and alpha thalassemia. Tsai CY, Yu CL, Tsai YY, Wu TH, Tsai ST. Scand J Rheumatol. 1996;25(1):61-2. |
| Purpura | ||
| Adult Homo sapiens Male alpha-Thalassemia | ||
| 24 (31.4%) |
19303226 |
[Major alpha-thalassemia: antenatal diagnosis, case report and literature review]. Saadi H, Alexander S, Barlow P, Van Regemorter N, Gulbis B, Thomas D. J Gynecol Obstet Biol Reprod (Paris). 2009;38(3):258-62. |
| Cardiomegaly Anemia | ||
| Adult Cardiomegaly Fatal Outcome Females Fetal Growth Retardation Homo sapiens Hydrops Fetalis Pregnancy Severity of Illness Index | ||
| 24 (31.4%) |
10085512 |
Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report. Doridot V, Sibony O, Luton D, Reyal F, Feraud O, Multon O, Oury JF, Blot P. Fetal Diagn Ther. 1999;14(2):122-4. |
| Intrauterine growth retardation Cardiomegaly Anemia | ||
| Abnormal Hemoglobins Anemia Cardiomegaly Females Fetal Diseases Fetal Growth Retardation Fetal Movement Homo sapiens Homozygote Oligohydramnios Pregnancy Ultrasonography, Prenatal alpha-Thalassemia | ||
| 26 (30.8%) |
19521930 |
Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia. Lee SY, Li CK, Ling SC, Shiu YK. J Matern Fetal Neonatal Med. 2009;22(8):711-3. |
| Hypertension Hemoglobin Barts | ||
| Abnormal Hemoglobins Exchange Transfusion, Whole Blood Females Hemoglobin High-Frequency Ventilation Homo sapiens Homozygote Infant, Newborn Intestinal Atresia Jejunum Persistent Fetal Circulation Syndrome Pregnancy alpha-Thalassemia | ||
| 27 (27.8%) |
25073259 |
Littoral cell angioma: review of the literature and case report. Mokhtari N, Hamidian Jahromi A, Dela Cruz N, Woodward A, Do D, Thomas-Ogunniyi JO, Sangster G. J La State Med Soc. 2013;165(6):329-33. |
| Splenomegaly | ||
| B-Cell Lymphomas Hemangioma Homo sapiens Male Middle Aged Splenic Neoplasms alpha-Thalassemia | ||
| 27 (27.8%) |
8969620 |
Case report: splenomegaly and splenic sequestration in an adult with sickle cell anemia. Moll S, Orringer EP. Am J Med Sci. 1996;312(6):299-302. |
| Splenomegaly | ||
| Adult Anemia, Sickle Cell Fetal Hemoglobin Hemoglobin Homo sapiens Homozygote Male Splenectomy Splenomegaly | ||
| 29 (27.2%) |
30728682 |
First Report of Association Between Rare alpha-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C). Ghadami E, Tamaddoni A, Sedaghat S, Tabaripour R, Pourreza Baboli H, Akhavan-Niaki H. Indian J Clin Biochem. 2019;34(1):115-117. |
| Hypochromic microcytic anemia | ||
| FCGRT HBA1 HBA2 | ||
| c|SUB|A|298|T c|SUB|G|64|C;RS#:281864817 | ||
| 29 (27.2%) |
25889935 (4363068) |
Parvovirus B19 infection presenting with severe erythroid aplastic crisis during pregnancy in a woman with autoimmune hemolytic anemia and alpha-thalassemia trait: a case report. Chen CC, Chen CS, Wang WY, Ma JS, Shu HF, Fan FS. J Med Case Rep. 2015;9:58. |
| Anemia | ||
| Adult Anti-Inflammatory Agents Bone Marrow Females Homo sapiens Immunologic Factors Pregnancy Pregnancy Complications, Hematologic Pregnancy Complications, Infectious alpha-Thalassemia |
Total: 12
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001935 | Microcytic anemia | Very frequent (99-80%) |
| HP:0011902 | Abnormal hemoglobin | Very frequent (99-80%) |
| HP:0000952 | Jaundice | Occasional (29-5%) |
| HP:0001081 | Cholelithiasis | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001878 | Hemolytic anemia | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0001971 | Hypersplenism | Occasional (29-5%) |
| HP:0002863 | Myelodysplasia | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 35
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001903 | Anemia | 16 |
| HP:0001878 | Hemolytic anemia | 4 |
| HP:0001935 | Microcytic anemia | 3 |
| HP:0005507 | Hemoglobin Barts | 3 |
| HP:0032231 | Hypochromia | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0001931 | Hypochromic anemia | 2 |
| HP:0011902 | Abnormal hemoglobin | 2 |
| HP:0000037 | Male pseudohermaphroditism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000979 | Purpura | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001927 | Acanthocytosis | 1 |
| HP:0001980 | Megaloblastic bone marrow | 1 |
| HP:0001994 | Renal Fanconi syndrome | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005162 | Left ventricular dysfunction | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030431 | Osteochondroma | 1 |
| HP:0100242 | Sarcoma | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|