| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (56.4%) |
29846281 |
Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia. Aydin Koker S, Karapinar TH, Oymak Y, Bianchi P, Fermo E, Gozmen S, Vergin C. J Pediatr Hematol Oncol. 2018;40(7):e421-e423. |
| Jaundice Splenomegaly Hemolytic anemia | ||
| C15orf41 CDA CDAN1 GATA1 KIF23 KLF1 SEC23B | ||
| c|SUB|C|40|T;RS#:766996635 p|FS|V|164|W|3;RS#:776983439 p|SUB|R|14|W;RS#:121918222 | ||
| Anemia, Hemolytic, Congenital High-Throughput Nucleotide Sequencing Homo sapiens Male Molecular Diagnostic Techniques Mutation Vesicular Transport Proteins | ||
| 1 (56.4%) |
27548341 |
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. Ozcan A, Patiroglu T, Acer H, Gumus H, Senol S, Karakukcu M, Ozdemir MA, Unal E. J Pediatr Hematol Oncol. 2016;38(8):e333-e335. |
| Jaundice Splenomegaly Anemia | ||
| SEC23B | ||
| Child, Preschool Fibromuscular Dysplasia Homo sapiens Icterus Male Reticulocytosis Splenomegaly | ||
| 1 (56.4%) |
21077766 |
A dyserythropoietic anemia associated with homozygous Hb Plasencia [alpha125(H8)Leu→Arg (alpha2)] (HBA2:c.377T>G), a variant with an unstable alpha chain. Garcon L, Iolascon A, Pissard S, Esposito MR, Russo R, Fenneteau O, Feneant-Thibault M, Heimpel H, Delaunay J. Hemoglobin. 2010;34(6):576-81. |
| Jaundice Splenomegaly Anemia | ||
| HBA2 SEC23B | ||
| c|SUB|CTG||CGG c|SUB|T|377|G;RS#:41397847 p|SUB|L||R rs41397847 | ||
| Abnormal Hemoglobins Adult Base Sequence DNA Mutational Analysis Females Homo sapiens Missense Mutation alpha-Globins | ||
| 1 (56.4%) |
11399576 |
Erythropoiesis: Case Report: Congenital Dyserythropoietic Anemia Type II in a Woman Presenting with Jaundice, Anemia, and Splenomegaly. Abali H, Haznedaroglu IC, Sayinalp N, Kosar A, Buyukasik Y, Ozatli D, Batman F. Hematology. 1999;4(4):357-360. |
| Jaundice Splenomegaly Hemolytic anemia | ||
| 5 (56.2%) |
750540 |
Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family. Eldor A, Matzner Y, Kahane I, Levene C, Polliack A. Isr J Med Sci. 1978;14(11):1138-43. |
| Splenomegaly Anemia Hyperbilirubinemia | ||
| FCGRT HBA2 | ||
| Adult Aplastic Anemia Bone Marrow Erythroblasts Erythropoiesis Ethnicity Females Globin Homo sapiens Israel Jews Male Thalassemia | ||
| 6 (54.4%) |
22781715 |
[Congenital dyserythropoietic anemia type II: a case report and literature review]. Li Y, Zhao X, Zhou K, Li Y, Li JP, Ye L, Peng GX, Fan HH, Jing LP, Zhang L, Zhang FK. Zhonghua Xue Ye Xue Za Zhi. 2012;33(4):270-3. |
| Jaundice Hepatosplenomegaly Anemia | ||
| SEC23B | ||
| Adult Females Homo sapiens Vesicular Transport Proteins | ||
| 6 (54.4%) |
9601875 |
[Favorable effect of splenectomy on anemia in 3 siblings with type II congenital dyserythropoietic anemia (HEMPAS). (Ultrastructural changes in erythrocytes after splenectomy)]. Chrobak L, Spacek J. Vnitr Lek. 1997;43(10):635-8. |
| Jaundice Hepatosplenomegaly Anemia | ||
| Adult Cholelithiasis Cholestasis Erythrocytes Follow-Up Studies Homo sapiens Male Splenectomy | ||
| 8 (50.0%) |
24801240 |
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A→G mutation, and pseudo-Gaucher cells in two siblings. Sharma P, Das R, Bansal D, Trehan A. Hematology. 2015;20(2):104-7. |
| Splenomegaly Hemolytic anemia | ||
| SEC23B | ||
| c|SUB|A|1385|G;RS#:780978419 p|SUB|Y|462|C;RS#:780978419 | ||
| Child Child, Preschool Erythroblasts Exons Females Genotype Homo sapiens India Male Mutation Sequence Analysis, DNA Sibling Vesicular Transport Proteins | ||
| 9 (48.9%) |
7725848 |
Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child. Gangarossa S, Romano V, Miraglia del Giudice E, Perrotta S, Iolascon A, Schiliro G. Acta Haematol. 1995;93(1):36-9. |
| Hepatosplenomegaly Nonspherocytic hemolytic anemia | ||
| G6PD | ||
| Anemia, Hemolytic, Congenital Nonspherocytic Child, Preschool Differential Diagnosis Homo sapiens Male | ||
| 10 (48.0%) |
1004360 |
[Congenital dyserythropoietic anemia type II. Another case report]. Hartwich G, Riemann J, Kronert E. Med Klin. 1976;71(48):2117-22. |
| Jaundice Anemia | ||
| Adult Bone Marrow Cells Erythroblasts Erythrocyte Membrane Erythropoiesis Females Half-Life Homo sapiens Icterus Male Splenectomy Thalassemia |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001903 | Anemia | 9 |
| HP:0000952 | Jaundice | 3 |
| HP:0002835 | Aspiration | 2 |
| HP:0012132 | Erythroid hyperplasia | 2 |
| HP:0001081 | Cholelithiasis | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0001978 | Extramedullary hematopoiesis | 1 |
| HP:0012345 | Abnormal glycosylation | 1 |
| HP:0012725 | Cutaneous syndactyly | 1 |
| HP:0020081 | Pappenheimer bodies | 1 |
| HP:0032366 | Positive direct antiglobulin test | 1 |