GATA2 Deficiency [deficit GATA2]

topical
2
Terms

deficit NK buněk
deficit transkripčního faktoru GATA-2
Embergerův syndrom
GATA-2 deficit
MonoMAC syndrom
myelodysplastický syndrom při akutní myeloidní leukemii

 

Emberger Syndrome
GATA2 Haploinsufficiency
Immunodeficiency type 21
MonoMac Syndrome
Myelodysplastic Syndrome Acute Myeloid Leukemia
Natural Killer Cell Deficiency
Primary Lymphedema with Myelodysplasia

Definition

A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system.

DUI
D000077428 MeSH Browser
CUI
M000640742
Previous indexing
GATA2 Transcription Factor (2011-2018)
History note
2019
Public note
2019

C Diseases
C15.378.190 Bone Marrow Diseases 187
C15.378.190.625 Myelodysplastic Syndromes 618
C15.378.190.625.062 Anemia, Refractory 32
C15.378.190.625.070 Anemia, Sideroblastic 59
C15.378.190.625.265 GATA2 Deficiency 2
C15.378.190.625.460 Hemoglobinuria, Paroxysmal 86
C16.320.051 Alagille Syndrome 19
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 330
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 99
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 2
C16.320.365 Hemoglobinopathies 68
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.540 Marfan Syndrome 105
C16.320.577 Muscular Dystrophies 140
C16.320.728 Osteochondrodysplasias 125
C16.320.784 Pelger-Huet Anomaly 7
C16.320.812 Pycnodysostosis 2
C16.320.925 Werner Syndrome 14