| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
25739845 |
Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review. Johnson JA, Yu SS, Elist M, Arkfeld D, Panush RS. Clin Rheumatol. 2015;34(9):1643-5. |
| Arthralgia Panniculitis | ||
| GATA2 | ||
| Adult Erythema Nodosum Females GATA2 Transcription Factor Homo sapiens Immunologic Deficiency Syndromes Mutation Panniculitis Young Adult | ||
| 1 (17.5%) |
22430350 |
GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. Ishida H, Imai K, Honma K, Tamura S, Imamura T, Ito M, Nonoyama S. Eur J Pediatr. 2012;171(8):1273-6. |
| Lymphopenia Panniculitis | ||
| GATA2 | ||
| c|SUB|G|1187|A p|SUB|R|396|Q | ||
| Females GATA2 Transcription Factor Genetic Markers Homo sapiens Immunologic Deficiency Syndromes Lymphedema Missense Mutation Phenotype Syndrome Young Adult | ||
| 3 (4.0%) |
31035956 |
GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. Mendes-de-Almeida DP, Andrade FG, Borges G, Dos Santos-Bueno FV, Vieira IF, da Rocha LKMDS, Mendes-da-Cruz DA, Zancope-Oliveira RM, Calado RT, Pombo-de-Oliveira MS. BMC Med Genet. 2019;20(1):64. |
| Hypothyroidism | ||
| c|SUB|C|1061|T;RS#:387906631 p|SUB|T|354|M;RS#:387906631 | ||
| Adult Anti-Bacterial Agents GATA2 Deficiency GATA2 Transcription Factor Homo sapiens Male Mutation Mycobacterium Infections, Nontuberculous Mycobacterium kansasii | ||
| 3 (4.0%) |
29618691 |
[MonoMAC syndrome patient developing myelodysplastic syndrome following persistent EBV infection]. Yamamoto H, Hattori H, Takagi E, Morishita T, Ishikawa Y, Terakura S, Nishida T, Ito Y, Murata M, Kiyoi H. Rinsho Ketsueki. 2018;59(3):315-322. |
| Pneumonia | ||
| STAG2 WNT1 | ||
| c|SUB|A|820-2|G p|FS|R|230|H|44 | ||
| Bone Marrow Bone Marrow Transplantation DNA Mutational Analysis Epstein-Barr Virus Infections GATA2 Deficiency GATA2 Transcription Factor Homo sapiens Male Middle Aged Remission Induction Young Adult | ||
| 3 (4.0%) |
27232273 |
Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency. Koegel AK, Hofmann I, Moffitt K, Degar B, Duncan C, Tubman VN. Pediatr Blood Cancer. 2016;63(10):1844-7. |
| Monocytopenia | ||
| GATA2 | ||
| Child Females GATA2 Transcription Factor Haploinsufficiency Homo sapiens Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | ||
| 3 (4.0%) |
26716079 (4672090) |
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. Lubking A, Vosberg S, Konstandin NP, Dufour A, Graf A, Krebs S, Blum H, Weber A, Lenhoff S, Ehinger M, Spiekermann K, Greif PA, Cammenga J. Leuk Res Rep. 2015;4(2):72-5. |
| Myelodysplasia | ||
| ASXL1 GATA2 | ||
| 3 (4.0%) |
25619630 (4402062) |
Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP, Jackson AE, Holland SM, Patnaik MM. Cancer Med. 2015;4(4):490-9. |
| Neutropenia | ||
| Adult Child Females GATA2 Transcription Factor Genetic Counseling Germ-Line Mutation Hematologic Neoplasms Homo sapiens Immunologic Deficiency Syndromes Male | ||
| 3 (4.0%) |
25537975 |
Fatal aortic pseudoaneurysm from disseminated Mycobacterium kansasii infection: case report. Ehsani L, Reddy SC, Mosunjac M, Kraft CS, Guarner J. Hum Pathol. 2015;46(3):467-70. |
| Aortic aneurysm | ||
| Adult Aneurysm, Infected Aneurysm, Ruptured Aortic Aneurysm Bronchoalveolar Lavage Fluid Diagnosis Fatal Outcome Homo sapiens Immunocompromised Host Male Multiple Pulmonary Nodules Mycobacterium Infections, Nontuberculous Mycobacterium kansasii Pseudoaneurysm | ||
| 3 (4.0%) |
23728141 |
MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature. Camargo JF, Lobo SA, Hsu AP, Zerbe CS, Wormser GP, Holland SM. Clin Infect Dis. 2013;57(5):697-9. |
| Immunodeficiency | ||
| GATA2 | ||
| GATA2 Transcription Factor Homo sapiens Immunologic Deficiency Syndromes Leukopenia Male Mycobacterium Infections Young Adult | ||
| 3 (4.0%) |
23344397 (3798064) |
Management of uterine bleeding during hematopoietic stem cell transplantation. Purisch SE, Shanis D, Zerbe C, Merideth M, Cuellar-Rodriguez J, Stratton P. Obstet Gynecol. 2013;121(2 Pt 2 Suppl 1):424-7. |
| Menorrhagia | ||
| GATA2 | ||
| Adult Antineoplastic Agents, Hormonal Contraceptives, Oral, Synthetic Females Fibroid Tumor GATA2 Transcription Factor Homo sapiens Immunologic Deficiency Syndromes Induction Chemotherapy Menorrhagia Uterine Balloon Tamponade Uterine Neoplasms |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012312 | Monocytopenia | 6 |
| HP:0002721 | Immunodeficiency | 2 |
| HP:0002863 | Myelodysplasia | 2 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001875 | Neutropenia | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002664 | Neoplasm | 1 |