CAMT
MCID: CNG052
MIFTS: 56

Congenital Amegakaryocytic Thrombocytopenia (CAMT) malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Congenital Amegakaryocytic Thrombocytopenia

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Wikipedia:65 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder. more...

MalaCards based summary: Congenital Amegakaryocytic Thrombocytopenia, also known as thrombocytopenia congenital amegakaryocytic, is related to thrombocytopenia and pancytopenia, and has symptoms including hemoglobinosis/hemoglobinopathy, thrombocytopenia/thrombopenia and x-linked recessive inheritance. An important gene associated with Congenital Amegakaryocytic Thrombocytopenia is MPL (myeloproliferative leukemia virus oncogene), and among its related pathways are Jak-STAT signaling pathway and IL-9 Signaling Pathways. The compounds megapoietin and mafosfamide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related mouse phenotypes are immune system and hematopoietic system.

Description from OMIM:46 604498

Aliases & Classifications for Congenital Amegakaryocytic Thrombocytopenia

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Sources:
30LifeMap Discovery®, 42NIH Rare Diseases, 48Orphanet, 62UMLS, 9diseasecard, 46OMIM, 20GeneTests, 22GTR, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Congenital Amegakaryocytic Thrombocytopenia, Aliases & Descriptions:

Name: Congenital Amegakaryocytic Thrombocytopenia 30 42 48 62
Thrombocytopenia Congenital Amegakaryocytic 42 20 22
Thrombocytopenia, Congenital Amegakaryocytic 9 46
 
Camt 42 48
Congenital Amegakaryocytic Thrombocytopenic Purpura 48
Amegakaryocytic Thrombocytopenia, Congenital 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
congenital amegakaryocytic thrombocytopenia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 604498
MESH via Orphanet35 C535982
ICD10 via Orphanet26 D61.0
UMLS via Orphanet63 C1327915

Related Diseases for Congenital Amegakaryocytic Thrombocytopenia

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Diseases in the Congenital Amegakaryocytic Thrombocytopenia family:

Thrombocytopenia, Acquired Amegakaryocytic

Diseases related to Congenital Amegakaryocytic Thrombocytopenia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.5THPO, MPL, IL3
2pancytopenia30.3THPO, MPL, IL3
3aplastic anemia30.3THPO, MPL, IL3
4thrombocythemia 110.4THPO
5purpura10.3THPO
6hematopoietic stem cell transplantation10.3
7erythrocytosis10.2IL3, MPL
8thrombocytopenia due to platelet alloimmunization10.1MPL, THPO
9myelofibrosis10.1MPL, THPO
10bone marrow cancer10.1THPO, MPL
11severe congenital neutropenia10.1THPO, IL3
12autoimmune thrombocytopenic purpura10.1MPL, THPO
13megakaryocytic leukemia10.1THPO, IL3
14splenomegaly10.1MPL, THPO
15diamond-blackfan anemia 110.1THPO, IL3
16hepatoblastoma10.1THPO, MPL
17fanconi's anemia10.1IL3, THPO
18liver cirrhosis10.1MPL, THPO
19factor v leiden thrombophilia10.0MPL, THPO
20severe combined immunodeficiency10.0IL3, IL18R1
21precursor t-cell acute lymphoblastic leukemia10.0IL3, IL18R1
22hodgkin's lymphoma10.0IL3, IL18R1
23t-cell leukemia9.9IL3, IL18R1
24refractory anemia9.9THPO, MPL, IL3
25hemorrhagic thrombocythemia9.9THPO, MPL, IL3
26polycythemia9.9IL3, MPL, THPO
27polycythemia vera9.9THPO, MPL, IL3
28thrombocytosis9.9IL3, MPL, THPO
29chronic lymphocytic leukemia9.9IL18R1, THPO
30galactosemia9.9MPL, THPO
31neutropenia9.9IL3, MPL, THPO
32hematologic cancer9.9THPO, MPL, IL3
33myelodysplastic syndromes9.9THPO, MPL, IL3
34primary hyperoxaluria9.9THPO, IL18R1
35acute erythroid leukemia9.9IL3, MPL, THPO
36chronic myeloid leukemia9.9IL3, MPL, THPO
37deficiency anemia9.9THPO, MPL, IL3
38myeloma9.9IL18R1, IL3
39ulcerative colitis9.9IL18R1, THPO
40immunodeficiency with hyper igm type 29.8IL18R1, THPO
41non-small cell lung carcinoma9.7IL18R1, IL3, THPO
42ipex syndrome9.7IL18R1, MPL, THPO
43sarcoma9.7IL18R1, THPO
44acute leukemia9.6IL18R1, IL3, MPL, THPO
45acute lymphoblastic leukemia9.6THPO, MPL, IL3, IL18R1
46myeloid leukemia9.6THPO, MPL, IL3, IL18R1
47leukemia9.6THPO, MPL, IL3, IL18R1

Graphical network of the top 20 diseases related to Congenital Amegakaryocytic Thrombocytopenia:



Diseases related to congenital amegakaryocytic thrombocytopenia

Symptoms for Congenital Amegakaryocytic Thrombocytopenia

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Symptoms by clinical synopsis from OMIM:

604498

Clinical features from OMIM:

604498

Symptoms:

48 (show all 12)
  • hemoglobinosis/hemoglobinopathy
  • thrombocytopenia/thrombopenia
  • x-linked recessive inheritance
  • coarse face
  • short neck
  • scoliosis
  • abnormal vertebral size/shape
  • pigmented naevi/naevus pigmentosus/lentigo
  • anaemia
  • short stature/dwarfism/nanism
  • poorly ossified skull/calvarium
  • cardiac septal defect

HPO human phenotypes related to Congenital Amegakaryocytic Thrombocytopenia:

(show all 17)
id Description Frequency HPO Source Accession
1 thrombocytopenia hallmark (90%) HP:0001873
2 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
3 coarse facial features typical (50%) HP:0000280
4 short neck typical (50%) HP:0000470
5 melanocytic nevus typical (50%) HP:0000995
6 anemia typical (50%) HP:0001903
7 scoliosis typical (50%) HP:0002650
8 abnormal form of the vertebral bodies typical (50%) HP:0003312
9 short stature typical (50%) HP:0004322
10 abnormality of the cardiac septa occasional (7.5%) HP:0001671
11 decreased skull ossification occasional (7.5%) HP:0004331
12 autosomal recessive inheritance HP:0000007
13 cerebellar vermis hypoplasia HP:0001320
14 thrombocytopenia HP:0001873
15 pancytopenia HP:0001876
16 amegakaryocytic thrombocytopenia HP:0004859
17 megakaryocytopenia HP:0005548

Drugs & Therapeutics for Congenital Amegakaryocytic Thrombocytopenia

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Drug clinical trials:

Search ClinicalTrials for Congenital Amegakaryocytic Thrombocytopenia

Search NIH Clinical Center for Congenital Amegakaryocytic Thrombocytopenia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-cell-based therapeutic approaches for Congenital Amegakaryocytic Thrombocytopenia:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Congenital Amegakaryocytic Thrombocytopenia:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Congenital Amegakaryocytic Thrombocytopenia

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Genetic tests related to Congenital Amegakaryocytic Thrombocytopenia:

id Genetic test Affiliating Genes
1 Amegakaryocytic Thrombocytopenia, Congenital20 MPL
2 Congenital Amegakaryocytic Thrombocytopenia22

Anatomical Context for Congenital Amegakaryocytic Thrombocytopenia

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MalaCards organs/tissues related to Congenital Amegakaryocytic Thrombocytopenia:

32
Bone marrow, Bone, Myeloid, T cells

Animal Models for Congenital Amegakaryocytic Thrombocytopenia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Amegakaryocytic Thrombocytopenia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0IL18R1, IL3, MPL, THPO
2MP:00053977.7IL18R1, IL3, MPL, THPO

Publications for Congenital Amegakaryocytic Thrombocytopenia

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Articles related to Congenital Amegakaryocytic Thrombocytopenia:

(show all 49)
idTitleAuthorsYear
1
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. (24438083)
2014
2
Congenital Amegakaryocytic Thrombocytopenia: A Case Report of Pediatric Twins Undergoing Matched Unrelated Bone Marrow Transplantation. (25171451)
2014
3
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature. (24119002)
2014
4
Congenital amegakaryocytic thrombocytopenia: three case reports from patients with different clinical diagnoses and somatic abnormalities. (25185677)
2014
5
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. (23908116)
2013
6
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. (23625800)
2013
7
A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1. (23443295)
2013
8
T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia. (21785471)
2012
9
Congenital amegakaryocytic thrombocytopenia. (21337678)
2011
10
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. (21489838)
2011
11
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. (22102270)
2011
12
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. (21162090)
2011
13
Congenital amegakaryocytic thrombocytopenia: a brief review of the literature. (21151552)
2010
14
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. (20188141)
2010
15
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature. (19490489)
2010
16
Advances in the understanding of congenital amegakaryocytic thrombocytopenia. (19388932)
2009
17
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. (19327586)
2009
18
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. (19302922)
2009
19
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498). (18519517)
2008
20
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. (18422784)
2008
21
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. (18240171)
2008
22
Congenital amegakaryocytic thrombocytopenia (CAMT): a case report with review of literature. (17883175)
2007
23
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. (17666371)
2007
24
Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation. (17034029)
2007
25
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. (17054430)
2006
26
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. (16470591)
2006
27
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. (16822462)
2006
28
Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor. (15667621)
2005
29
Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. (15782403)
2005
30
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. (16351641)
2005
31
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. (16219544)
2005
32
Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT). (14968137)
2004
33
Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. (12799278)
2003
34
Successful engraftment of unrelated donor stem cells in two children with congenital amegakaryocytic thrombocytopenia. (11902750)
2002
35
From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia]. (11913111)
2002
36
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. (11133753)
2001
37
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism. (11392330)
2001
38
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. (10971406)
2000
39
Identification of mutations in c-mpl gene in congenital amegakaryocytic thrombocytopenia]. (11187928)
2000
40
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). (11071383)
2000
41
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. (10077649)
1999
42
Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. (9029014)
1997
43
Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. (7670411)
1995
44
Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. (8461459)
1993
45
Congenital amegakaryocytic thrombocytopenia: an intrinsic hematopoietic stem cell defect. (2378417)
1990
46
A case report of congenital amegakaryocytic thrombocytopenia. (6866544)
1983
47
Congenital amegakaryocytic thrombocytopenia. (5689748)
1968
48
A case of congenital amegakaryocytic thrombocytopenia with leukemoid blood picture and congenital deformities. (13662107)
1959
49
Congenital amegakaryocytic thrombocytopenia with congenital deformities and a leukemoid blood picture in the newborn. (13436513)
1957

Variations for Congenital Amegakaryocytic Thrombocytopenia

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Clinvar genetic disease variations for Congenital Amegakaryocytic Thrombocytopenia:

6
id Gene Name Type Significance SNP ID Assembly Location
1MPLNM_005373.2(MPL): c.556C> T (p.Gln186Ter)single nucleotide variantPathogenicrs121913610GRCh37Chr 1, 43805106: 43805106
2MPLMPL, 1-BP DEL, 1499TdeletionPathogenic
3MPLNM_005373.2(MPL): c.769C> T (p.Arg257Cys)single nucleotide variantPathogenicrs121913611GRCh37Chr 1, 43805713: 43805713
4MPLNM_005373.2(MPL): c.1904C> T (p.Pro635Leu)single nucleotide variantPathogenicrs121913612GRCh37Chr 1, 43818439: 43818439
5MPLNM_005373.2(MPL): c.305G> C (p.Arg102Pro)single nucleotide variantPathogenicrs28928907GRCh37Chr 1, 43804305: 43804305
6MPLNM_005373.2(MPL): c.1473G> A (p.Trp491Ter)single nucleotide variantPathogenicrs121913613GRCh37Chr 1, 43814938: 43814938
7MPLMPL, IVS10AS, G-T, -1single nucleotide variantPathogenic
8MPLNM_005373.2(MPL): c.823C> A (p.Pro275Thr)single nucleotide variantPathogenicrs28928908GRCh37Chr 1, 43805767: 43805767

Expression for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Expression patterns in normal tissues for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

Search GEO for disease gene expression data for Congenital Amegakaryocytic Thrombocytopenia.

Pathways for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Pathways related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Type III interferon signaling37
9.4MPL, IL3
2
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.3MPL, THPO
3
Show member pathways
9.3THPO, MPL
4
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
9.3THPO, MPL
59.3IL3, THPO
6
Show member pathways
9.3IL3, THPO
7
Show member pathways
9.1IL18R1, IL3
8
Show member pathways
8.6MPL, IL3, IL18R1
9
Show member pathways
8.5IL18R1, IL3, THPO
10
Show member pathways
8.5IL18R1, IL3, THPO
11
Show member pathways
8.5IL18R1, IL3, THPO
12
Show member pathways
8.0IL18R1, IL3, MPL, THPO

Compounds for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Compounds related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1megapoietin449.8THPO, MPL
2mafosfamide449.8IL3, THPO
3anagrelide44 1110.8MPL, THPO
4pixy321449.8IL3, THPO
5amifostine44 1110.7THPO, IL3
6gm-csf44 2810.7THPO, IL3
7ifosfamide44 1110.7IL3, THPO
8methylcellulose449.7IL3, THPO
9leucovorin44 50 1111.7THPO, IL3
10thromboxane44 2410.7MPL, THPO
11carboplatin44 50 1111.7THPO, IL3
12hydroxyurea44 50 1111.7IL3, THPO
13cytarabine44 50 1111.6IL3, THPO
14imatinib44 50 1111.6IL3, THPO
155-aza-2deoxycytidine449.6IL3, THPO
16fmlp449.6THPO, IL3
17prostacyclin449.6IL3, THPO
18ivig449.5IL18R1, IL3
19neopterin449.5IL18R1, IL3
20aspirin44 50 28 2412.5THPO, MPL
21etoposide44 50 61 1112.4IL3, THPO
22clozapine44 28 50 1112.4IL18R1, IL3
23tacrolimus44 50 1111.3IL18R1, IL3
24butyrate449.3IL3, THPO
25calcitriol44 61 24 1112.3IL18R1, IL3
265fluorouracil449.2THPO, MPL, IL3
27agar449.2IL3, MPL, THPO
28phosphotyrosine449.2IL18R1, IL3
29histidine449.0MPL, THPO
3012-o-tetradecanoylphorbol 13-acetate449.0IL18R1, IL3
31filgrastim44 1110.0IL18R1, IL3, THPO
32polyethylene glycol449.0IL18R1, MPL, THPO
33threonine448.9IL18R1, IL3, MPL
34rantes448.9IL18R1, IL3, THPO
35polysaccharide448.9IL18R1, IL3, THPO
36rapamycin448.9IL18R1, IL3, THPO
37ly294002448.9THPO, IL3, IL18R1
38thymidine44 249.9IL18R1, IL3, THPO
39heparin44 28 24 1111.9THPO, IL3, IL18R1
40adenylate448.9IL18R1, IL3, THPO
41dexamethasone44 50 28 1111.9THPO, IL3, IL18R1
42vegf448.9IL18R1, MPL, THPO
43estrogen448.8IL18R1, IL3, THPO
44retinoic acid44 249.8THPO, IL3, IL18R1
45serine448.6MPL, IL3, IL18R1
46gp 130448.4IL18R1, IL3, MPL, THPO
47phosphatidylinositol448.4THPO, MPL, IL3, IL18R1
48alanine448.4IL18R1, IL3, MPL, THPO
49cysteine448.4THPO, MPL, IL3, IL18R1
50tyrosine448.4IL18R1, IL3, MPL, THPO

GO Terms for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Biological processes related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.3MPL, THPO

Molecular functions related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.3IL3, THPO
2growth factor activityGO:0080839.0IL3, THPO

Products for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Sources for Congenital Amegakaryocytic Thrombocytopenia

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3CDC
13ExPASy
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
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35MESH via Orphanet
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40NDF-RT
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47OMIM via Orphanet
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58SNOMED-CT via Orphanet
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