| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
29225250 (5849550) |
Importance of the Average Glucose Level and Estimated Glycated Hemoglobin in a Diabetic Patient with Hereditary Hemolytic Anemia and Liver Cirrhosis. Nakatani R, Murata T, Usui T, Moriyoshi K, Komeda T, Masuda Y, Kakita-Kobayashi M, Tagami T, Imashuku S, Kono S, Yamada K, Shimatsu A. Intern Med. 2018;57(4):537-543. |
| Diabetes mellitus | ||
| PIEZO1 | ||
| Adult Anemia, Hemolytic, Congenital Biological Markers Blood Glucose Blood Glucose Self-Monitoring Complications of Diabetes Mellitus Homo sapiens Hydrops Fetalis Liver Cirrhosis Male | ||
| 1 (4.0%) |
28121068 (5858911) |
Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis. Yang E, Voelkel EB, Lezon-Geyda K, Schulz VP, Gallagher PG. Pediatr Blood Cancer. 2017;64(8):. |
| Dehydration | ||
| Anemia, Hemolytic, Congenital Erythrocyte Indices Erythrocytes Hemoglobin C Disease Homo sapiens Hydrops Fetalis Ion Channel Male Mutation | ||
| 1 (4.0%) |
26148990 |
A mutation in the Gardos channel is associated with hereditary xerocytosis. Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Beroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C. Blood. 2015;126(11):1273-80. |
| Anemia | ||
| CALM1 | ||
| rs774455945 | ||
| Adult Amino Acid Sequence Anemia, Hemolytic, Congenital Animals Child, Preschool Females Genes, Dominant HEK293 Cells Homo sapiens Hydrops Fetalis In Vitro Techniques Infant Infant, Newborn Intermediate-Conductance Calcium-Activated Potassi... Male Missense Mutation Models, Molecular Molecular Sequence Data Mutant Proteins Oocytes Patch-Clamp Techniques Pregnancy Recombinant Proteins Sequence Homology, Amino Acid Xenopus laevis | ||
| 1 (4.0%) |
24488397 (4880395) |
Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging. Assis RA, Kassab C, Seguro FS, Costa FF, Silveira PA, Wood J, Hamerschlak N. Einstein (Sao Paulo). 2013;11(4):528-32. |
| Hemolytic anemia | ||
| Anemia, Hemolytic, Congenital Chelation Therapy Females Homo sapiens Hydrops Fetalis Iron Overload Magnetic Resonance Imaging Siderophores | ||
| 1 (4.0%) |
23479567 |
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A. Blood. 2013;121(19):3925-35, S1-12. |
| Edema | ||
| CD34 PIEZO1 | ||
| p|SUB|R|2456|H;RS#:587776988 p|SUB|R|2488|Q;RS#:749288233 rs200970763 rs202103485 rs587776988 rs587776991 rs587777764 rs587777765 rs587777766 | ||
| Adult Amino Acid Sequence Anemia, Hemolytic, Congenital Animals Biological Models Embryo, Mammalian Females Gene Expression Regulation, Developmental Homo sapiens Hydrops Fetalis Ion Channel Mice, Transgenic Molecular Sequence Data Mus Mutation Sequence Homology, Amino Acid Transfection Xenopus laevis | ||
| 1 (4.0%) |
19644137 |
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis. Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L. Haematologica. 2009;94(8):1049-59. |
| Hemolytic anemia | ||
| LYN SYK | ||
| p|SUB|G|796|R | ||
| Adult Amino Acid Sequence Amino Acid Substitution Anemia, Hemolytic, Congenital Animals Anion Exchange Protein 1, Erythrocyte Erythrocytes Females Homo sapiens Ion Transport Male Membrane Proteins Mutation Oocytes Western Blotting | ||
| 1 (4.0%) |
17590481 |
[Recurrence of thromboembolic disease after splenectomy for hereditary xerocytosis]. Carli P, Graffin B, Gisserot O, Landais C, De Jaureguiberry JP. Rev Med Interne. 2007;28(12):879-81. |
| Thrombophlebitis | ||
| Anemia, Hemolytic, Congenital Females Homo sapiens Iron Overload Middle Aged Splenectomy | ||
| 1 (4.0%) |
16113561 |
Prenatal diagnosis and management of fetal xerocytosis associated with ascites. Sanchez M, Palacio M, Borrell A, Carmona F, Cobo T, Coll O, Cararach V. Fetal Diagn Ther. 2005;20(5):402-5. |
| Ascites | ||
| Adult Anemia, Hemolytic, Congenital Ascites Blood Transfusion, Intrauterine Exchange Transfusion, Whole Blood Females Homo sapiens Hydrops Fetalis Infant, Newborn Paracentesis Pregnancy Preterm Infant | ||
| 1 (4.0%) |
15574255 |
[Congenital xerocytosis]. Aleo Lujan E, Gil Lopez C, Ataulfo Gonzalez F, Villegas Martinez A, Valverde Moreno F. An Pediatr (Barc). 2004;61(6):542-5. |
| Jaundice | ||
| Anemia, Hemolytic, Congenital Child Erythrocyte Membrane Homo sapiens Male Na(+)-K(+)-Exchanging ATPase | ||
| 1 (4.0%) |
15252404 |
A case of hereditary xerocytosis diagnosed as a result of suspected hypoglycemia and observed low glycohemoglobin. Jokinen CH, Swaim WR, Nuttall FQ. J Lab Clin Med. 2004;144(1):27-30. |
| Reticulocytosis | ||
| Anemia, Hemolytic, Congenital Nonspherocytic Differential Diagnosis Erythrocyte Membrane Hematologic Tests Homo sapiens Hypoglycemia Male Middle Aged Nuclear Family Reticulocytes |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001878 | Hemolytic anemia | 3 |
| HP:0001541 | Ascites | 2 |
| HP:0001944 | Dehydration | 2 |
| HP:0004863 | Compensated hemolytic anemia | 2 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0004870 | Chronic hemolytic anemia | 1 |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration | 1 |
| HP:0030242 | Portal vein thrombosis | 1 |