| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.0%) |
24193021 |
Variations in both alpha-spectrin (SPTA1) and beta-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM. Neonatology. 2014;105(1):1-4. |
| Jaundice Anemia Hyperbilirubinemia Pyropoikilocytosis | ||
| ANK1 EPB41 EPB42 SLC4A1 SPTA1 SPTB | ||
| Comorbidity Elliptocytosis, Hereditary Females Homo sapiens Infant Male Mutation Neonatal Jaundice Phototherapy Spectrin | ||
| 2 (56.2%) |
8790144 |
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. Pranke PH, Basseres DS, Costa FF, Saad ST. Br J Haematol. 1996;94(3):470-5. |
| Splenomegaly Elliptocytosis | ||
| SFTPA1 | ||
| Adult Brazil Child, Preschool Elliptocytosis, Hereditary Females Homo sapiens Homozygote Male Spectrin | ||
| 3 (54.2%) |
22796621 |
[A case of hereditary pyropoikilocytosis with mild expression and delayed onset]. Bock I, Perrin J, Braun F, Garcon L, Lesesve JF. Ann Biol Clin (Paris). 2012;70(4):483-8. |
| Jaundice Anisopoikilocytosis | ||
| Adult Delayed Diagnosis Ectopic Pregnancy Elliptocytosis, Hereditary Females Homo sapiens Incidental Findings Pregnancy | ||
| 3 (54.2%) |
3580577 |
Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis. Pothier B, Morle L, Alloisio N, Ducluzeau MT, Caldani C, Feo C, Garbarz M, Chaveroche I, Dhermy D, Lecomte MC, et al.. Blood. 1987;69(6):1759-65. |
| Intermittent jaundice Pyropoikilocytosis | ||
| rs863223303 | ||
| Collodion Elliptocytosis, Hereditary Erythrocyte Deformability Homo sapiens Male Membrane Proteins Paper Peptide Mapping Polyacrylamide Gel Electrophoresis Spectrin | ||
| 5 (50.0%) |
1308902 |
[Clinical and biochemical study of 9 patients with hereditary elliptocytosis]. Feldman L, Marick T, Cerone S, Sansinanea A, Lecomte MC, Dhermy D, Boivin P. Medicina (B Aires). 1992;52(2):109-15. |
| Splenomegaly Anemia | ||
| EPB41 | ||
| Adult Child Child, Preschool Cytoskeletal Proteins Elliptocytosis, Hereditary Erythrocyte Deformability Erythrocyte Membrane Family Females Flow Cytometry Homo sapiens Male Membrane Proteins Neuropeptides Polyacrylamide Gel Electrophoresis Spectrin | ||
| 6 (49.1%) |
2667341 |
Severe hemolysis and red cell fragmentation caused by the combination of a spectrin mutation with a thrombotic microangiopathy. Jarolim P, Palek J, Coetzer TL, Lawler J, Velez-Garcia E, Fradera J, Charles A, Jacob HS, Moake JL. Am J Hematol. 1989;32(1):50-6. |
| Purpura Pyropoikilocytosis | ||
| SFTPA1 | ||
| Adult Erythrocytes Females Graft Rejection Homo sapiens Kidney Transplantation Mutation Purpura, Thrombotic Thrombocytopenic Spectrin Structure-Activity Relationship Thrombosis Vascular Diseases | ||
| 7 (40.4%) |
31145309 |
A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report. Xi Y, Wang L, Zhang P, Jia M, Li Z. Medicine (Baltimore). 2019;98(22):e15800. |
| Jaundice Splenomegaly Hyperbilirubinemia | ||
| EPB41 SPTA1 | ||
| c|DEL|7220_7221| p|SUB|Y|2407|* | ||
| Asians Carrier Proteins Elliptocytosis, Hereditary Exons Females Homo sapiens Hyperbilirubinemia Microfilament Proteins Mutation Spectrin Whole Exome Sequencing Young Adult | ||
| 8 (40.2%) |
19829866 (2740176) |
Transient pure red blood cell aplasia as clinical presentation of congenital hemolytic anemia: a case report. Figueiredo S, Pio D, Martins M, Seabra C, Pinhal M, Parada A. Cases J. 2009;2:6814. |
| Seizure Anemia Fever Elliptocytosis | ||
| 9 (38.2%) |
8308671 |
Thrombosis of the portal venous system after splenectomy for pediatric hematologic disease. Skarsgard E, Doski J, Jaksic T, Wesson D, Shandling B, Ein S, Babyn P, Heiss K, Hu X. J Pediatr Surg. 1993;28(9):1109-12. |
| Purpura Fever | ||
| Child Females Hematological Disease Homo sapiens Male Postoperative Complications Splenectomy Thrombosis Ultrasonography | ||
| 10 (34.0%) |
24077844 |
Novel exon 2 alpha spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct alpha spectrin defects. Swierczek S, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT. Haematologica. 2013;98(12):1972-9. |
| Hemolytic anemia Pyropoikilocytosis | ||
| p|SUB|R|34|P | ||
| Adult Elliptocytosis, Hereditary Exons Females Homo sapiens Male Mutation Phenotype Protein Structure, Secondary Spectrin Tertiary Protein Structure |
Total: 20
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001877 | Abnormal erythrocyte morphology | Obligate (100%) |
| HP:0004445 | Elliptocytosis | Frequent (79-30%) |
| HP:0005502 | Increased red cell osmotic fragility | Frequent (79-30%) |
| HP:0000952 | Jaundice | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001878 | Hemolytic anemia | Occasional (29-5%) |
| HP:0001923 | Reticulocytosis | Occasional (29-5%) |
| HP:0002904 | Hyperbilirubinemia | Occasional (29-5%) |
| HP:0003265 | Neonatal hyperbilirubinemia | Occasional (29-5%) |
| HP:0004446 | Stomatocytosis | Occasional (29-5%) |
| HP:0004447 | Poikilocytosis | Occasional (29-5%) |
| HP:0004804 | Congenital hemolytic anemia | Occasional (29-5%) |
| HP:0006579 | Prolonged neonatal jaundice | Occasional (29-5%) |
| HP:0001081 | Cholelithiasis | Very rare (4-1%) |
| HP:0001789 | Hydrops fetalis | Very rare (4-1%) |
| HP:0001945 | Fever | Very rare (4-1%) |
| HP:0002007 | Frontal bossing | Very rare (4-1%) |
| HP:0002027 | Abdominal pain | Very rare (4-1%) |
| HP:0008897 | Postnatal growth retardation | Very rare (4-1%) |
| HP:0025143 | Chills | Very rare (4-1%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004839 | Pyropoikilocytosis | 11 |
| HP:0004445 | Elliptocytosis | 5 |
| HP:0000952 | Jaundice | 2 |
| HP:0001903 | Anemia | 2 |
| HP:0002904 | Hyperbilirubinemia | 2 |
| HP:0004447 | Poikilocytosis | 2 |
| HP:0000979 | Purpura | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001935 | Microcytic anemia | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002018 | Nausea | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0004804 | Congenital hemolytic anemia | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0200119 | Acute hepatitis | 1 |