About: MonoMAC

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

disease

Attributes	Values
rdf:type	Item
owl:sameAs	MonoMAC
description	disease (en) Krankheit (de) maladie (fr) malattia (it) хвороба (uk)
exact match	wds:Q6901244-732A67AB-51D2-46AA-9FF0-C697DF3818C8 wds:Q6901244-D7A8E595-65C2-468D-8939-8D5BB05BD864 wds:Q6901244-EAAD7F7F-3006-4721-9EC1-D0A60B6BB5B1
exact match	http://purl.obolibrary.org/obo/DOID_0111947 http://identifiers.org/doid/DOID:0111947 http://www.orpha.net/ORDO/Orphanet_228423
Mondo ID	wds:Q6901244-80E70917-DE73-48B0-9DF8-45748285F060
Disease Ontology ID	wds:Q6901244-85E92690-DE42-484F-B42B-AFF0CE81DAA3
symptoms and signs	wds:Q6901244-bacd1fdc-483b-7ef4-b266-e2015ec544b4
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013607
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111947
Mondo ID	MONDO_0013607
Disease Ontology ID	DOID:0111947
symptoms and signs	monocytopenia
rdfs:label	MonoMAC (en) Síndrome MonoMAC (es) monocytopénie avec susceptibilité aux infections (fr)
skos:prefLabel	MonoMAC (en) Síndrome MonoMAC (es) monocytopénie avec susceptibilité aux infections (fr)
name	MonoMAC (en) Síndrome MonoMAC (es) monocytopénie avec susceptibilité aux infections (fr)
instance of	wds:Q6901244-355ACC47-6900-41A6-8EF3-A0D7F29D6DB6 wds:Q6901244-D7260558-62B5-492F-8C8D-708D345C5010
instance of	class of disease rare disease
subclass of	wds:Q6901244-00BBF69B-4402-43A0-B83F-4087BC2C40D5 wds:Q6901244-12a6e25f-4c2e-db84-0e9b-3e2d1fb3787b wds:Q6901244-7ee38c84-4064-5cf6-f745-a64fb88d276e wds:Q6901244-F9152932-8ED8-4F27-A2E6-C542AB7773BB
subclass of	primary immunodeficiency disease GATA2 deficiency autosomal dominant disease quantitative and/or qualitative congenital phagocyte defect
UniProt disease ID	wds:Q6901244-9a06eaae-4953-912d-069e-0cef317dfda1
Orphanet ID	wds:Q6901244-143be127-46e5-112d-cdb0-865948d4680e
genetic association	wds:Q6901244-3AE017A6-439C-41FB-84E8-0AA09924E70F
ICD-10-CM	wds:Q6901244-B076244C-C94E-4944-BAE7-4FE052689E10
OMIM ID	wds:Q6901244-e61effbe-4cc4-87f8-3ad1-10bd38bf93be
UniProt disease ID	DI-03212
Orphanet ID	228423
genetic association	GATA2
ICD-10-CM	D72.8
OMIM ID	614172
skos:altLabel	Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency (en) Combined Immunodeficiency With Susceptibility to Mycobacterial, Viral, and Fungal Infections (en) Dendritic cell, monocyte, B and NK lymphoid deficiency (en) Gata2 Deficiency (en) IMD21 (en) IMMUNODEFICIENCY 21 (en) IMMUNODEFICIENCY 21; IMD21 (en) Immunodeficiency type 21 (en) MonoMAC (fr) Monocytopenia and Mycobacterial Infection Syndrome (en) immunodeficiency 21 (en) Monocytopenia With Susceptibility to Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia (en) Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections (en) Monocyte-B-natural killer-dendritic cell deficiency syndrome (en)
UMLS CUI	wds:Q6901244-E665632A-A091-43CD-8C37-F5109C9D968B
Microsoft Academic ID	wds:Q6901244-A743D124-A5AC-40FF-A0E8-975D3AEADBF3
Microsoft Academic ID	https://makg.org/entity/2780711755
UMLS CUI	C3280030
Microsoft Academic ID	2780711755
is owl:sameAs of	MonoMAC
is about of	MonoMAC https://www.wikidata.org/wiki/Special:EntityData/Q6901244 MonoMAC https://es.wikipedia.org/wiki/S%C3%ADndrome_MonoMAC
is main subject of	GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers Arachidonic acid increases matrix metalloproteinase 9 secretion and expression in human monocytic MonoMac 6 cells High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders Glycated albumin (Amadori product) induces activation of MAP kinases in monocyte-like MonoMac 6 cells Binding of Amadori glucose-modified albumin by the monocytic cell line MonoMac 6 activates protein kinase C epsilon protein tyrosine kinases and the transcription factors AP-1 and NF-kappaB. Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency Generalized verrucosis in a patient with GATA2 deficiency OxLDL immune complexes activate complement and induce cytokine production by MonoMac 6 cells and human macrophages Chemokine-induced extravasation of MonoMac 6 cells: chemotaxis and MMP activity Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency Pseudo-Sarcoidosis Revealing MonoMAC Syndrome GATA2 deficiency and related myeloid neoplasms Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation. GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells GATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia

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