MCID: CNG021
MIFTS: 54

Congenital Toxoplasmosis malady

Fetal diseases, Neuronal diseases, Infectious diseases categories

Summaries for Congenital Toxoplasmosis

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. spontaneous abortion and stillbirth may occur.

MalaCards: Congenital Toxoplasmosis, also known as toxoplasma embryofetopathy, is related to toxoplasmosis and meningitis, and has symptoms including hypotonia, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Congenital Toxoplasmosis is CD40LG (CD40 ligand), and among its related pathways is Primary immunodeficiency. The compounds sulfolipid i and sandoglobulin have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and liver, and related mouse phenotype nervous system.

Aliases & Classifications for Congenital Toxoplasmosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Infectious diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
congenital toxoplasmosis:
Inheritance: Sporadic; Age of onset: Variable


Aliases & Descriptions:

congenital toxoplasmosis 8 42 10 48
toxoplasma embryofetopathy 48
toxoplasmosis, congenital 60
toxoplasmosis congenital 44
toxoplasmosis - congen. 8
toxoplasma embryopathy 48


External Ids:

Disease Ontology8 DOID:13336
MeSH34 D014125
NCIt39 C50503
MESH via Orphanet35 D014125
ICD10 via Orphanet26 P37.1
SNOMED-CT via Orphanet57 73893000
UMLS via Orphanet61 C0040560
ICD1025 P37.1

Related Diseases for Congenital Toxoplasmosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Congenital Toxoplasmosis family:

Toxoplasmosis

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1toxoplasmosis31.9CD79A, CD40LG
2meningitis29.9CD79A
3rubella29.9CD79A, CD40LG
4chorioretinitis10.4
5retinitis10.3
6diabetes insipidus10.3
7cerebritis10.2
8cataract10.2
9myelitis10.1
10cd40 ligand deficiency10.0CD40LG
11cryptosporidiosis10.0CD79A
12meningoencephalitis10.0CD79A
13syphilis10.0CD79A
14celiac disease10.0CD79A
15dermatitis herpetiformis10.0CD79A
16pemphigus foliaceus10.0CD79A
17q fever10.0CD79A
18brucellosis10.0CD79A
19guillain-barre syndrome10.0CD40LG
20mumps10.0CD79A
21leptospirosis10.0CD40LG
22pyelonephritis10.0CD79A
23immunoglobulin g deficiency10.0CD40LG, CD79A
24macroglobulinemia10.0CD79A
25selective iga deficiency disease10.0CD79A, CD40LG
26dermatitis10.0CD79A
27immunodeficiency, centromere instability and facial anomalies syndrome10.0CD79A, CD40LG
28immunoglobulin alpha deficiency10.0CD79A, CD40LG
29immunodeficiency with hyper igm type 110.0CD40LG, CD79A
30infectious mononucleosis10.0CD40LG, CD79A
31connective tissue disease10.0CD40LG, CD79A
32immunodeficiency, common variable, 710.0CD79A, CD40LG
33ankylosing spondylitis10.0CD40LG, CD79A
34autoimmune hemolytic anemia10.0CD79A, CD40LG
35cryoglobulinemia10.0CD40LG, CD79A
36agammaglobulinemia10.0CD79A, CD40LG
37iga glomerulonephritis10.0CD40LG, CD79A
38arthritis10.0COL2A1
39rheumatic disease10.0CD40LG, COL2A1
40primary biliary cirrhosis10.0CD79A, CD40LG
41blindness10.0ABCA4, COL2A1
42rheumatoid arthritis10.0CD40LG, COL2A1, CD79A
43biliary atresia10.0
44choroiditis10.0
45sensorineural hearing loss10.0
46lymphocytic choriomeningitis10.0
47west syndrome10.0
48retinitis pigmentosa10.0
49hereditary elliptocytosis10.0
50microcephaly10.0

Graphical network of the top 20 diseases related to Congenital Toxoplasmosis:



Diseases related to congenital toxoplasmosis

Clinical Features for Congenital Toxoplasmosis

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Sources:
48Orphanet
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Symptoms:

48 (show all 27)
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anaemia
  • thrombocytopenia/thrombopenia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • intracranial/cerebral calcifications
  • hydrocephaly
  • prematurity
  • antenatal exposure : toxoplasmosis
  • mild visual loss/impaired visual acuity
  • microcephaly
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • visual loss/blindness/amblyopia
  • nystagmus
  • hearing loss/hypoacusia/deafness
  • macules
  • ascitis
  • acute diarrhea
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • abnormal hepatic enzymes/transaminases
  • cardiomegaly
  • lymphadenopathy/polyadenopathies
  • dilated cerebral ventricles without hydrocephaly
  • retinitis pigmentosa/retinal pigmentary changes

Drugs & Therapeutics for Congenital Toxoplasmosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Toxoplasmosis

Drug clinical trials:

Search ClinicalTrials for Congenital Toxoplasmosis

Search NIH Clinical Center for Congenital Toxoplasmosis

Search CenterWatch for Congenital Toxoplasmosis

Genetic Tests for Congenital Toxoplasmosis

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Anatomical Context for Congenital Toxoplasmosis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Congenital Toxoplasmosis:

32
Testes, Brain, Liver, Eye, Placenta, Pituitary, Whole blood, Spinal cord, Monocytes, B cells, Fetal brain

Animal Models for Congenital Toxoplasmosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Toxoplasmosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.6ABCA4, CD79A, CD40LG, NLRP1, COL2A1

Publications for Congenital Toxoplasmosis

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Sources:
50PubMed
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Articles related to Congenital Toxoplasmosis:

(show top 50)    (show all 528)
idTitleAuthorsYear
1
It is not only the cat that did it: How to prevent and treat congenital toxoplasmosis. (24119928)
2014
2
The global burden of congenital toxoplasmosis: a systematic review. (23825877)
2013
3
Association between the risk of congenital toxoplasmosis and the classification of toxoplasmosis in pregnant women and prenatal treatment in Brazil, 1994-2009. (22522069)
2012
4
Long-term ocular outcome in congenital toxoplasmosis: a prospective cohort of treated children. (22051915)
2012
5
Polymerase chain reaction in the diagnosis of congenital toxoplasmosis: more than two decades of development and evaluation. (21221639)
2011
6
Diagnosis of congenital toxoplasmosis by polymerase chain reaction on neonatal peripheral blood. (21856107)
2011
7
Prenatal brain imaging in congenital toxoplasmosis. (21706510)
2011
8
Diagnosis of congenital toxoplasmosis by using a whole-blood gamma interferon release assay. (19923492)
2010
9
Congenital toxoplasmosis transmitted by human immunodeficiency-virus infected women. (20563448)
2010
10
Congenital toxoplasmosis after a preconceptional or periconceptional maternal infection. (19561432)
2009
11
Toxoplasmosis snapshots: global status of Toxoplasma gondii seroprevalence and implications for pregnancy and congenital toxoplasmosis. (19433092)
2009
12
A case of congenital toxoplasmosis whose mother demonstrated serum low IgG avidity and positive tests for multiplex-nested PCR in the amniotic fluid. (19708184)
2009
13
Imaging of congenital toxoplasmosis macular scars with optical coherence tomography. (19262439)
2009
14
Genotyping of Toxoplasma gondii by multiplex PCR and peptide-based serological testing of samples from infants in Poland diagnosed with congenital toxoplasmosis. (16597866)
2006
15
Unusual pattern of calcification in congenital toxoplasmosis: the tram-track sign. (16520973)
2006
16
Refinement of the mouse model of congenital toxoplasmosis. (16469312)
2006
17
Association between congenital toxoplasmosis and parent-reported developmental outcomes, concerns, and impairments, in 3 year old children. (16014166)
2005
18
Incidence of congenital toxoplasmosis estimated by neonatal screening: relevance of diagnostic confirmation in asymptomatic newborn infants. (15962555)
2005
19
Toxopain-1 is critical for infection in a novel chicken embryo model of congenital toxoplasmosis. (15102804)
2004
20
Population pharmacokinetics of pyrimethamine and sulfadoxine in children treated for congenital toxoplasmosis. (15388436)
2004
21
Sulfadiazine and pyrimethamine in the postnatal treatment of congenital toxoplasmosis: what are the options? (15482110)
2003
22
Proceedings of the European Symposium on Congenital Toxoplasmosis. 10-11 October 2002, Paris, France. (12886911)
2003
23
Prognostic factors for the long-term development of ocular lesions in 327 children with congenital toxoplasmosis. (14959784)
2003
24
Failure to implement a preventive strategy against congenital toxoplasmosis in Italy. (12802961)
2003
25
Screening and prevention of congenital toxoplasmosis: an effectiveness study in a population with a high infection rate. (15061319)
2003
26
Congenital toxoplasmosis in Israel: to screen or not to screen. (11875985)
2002
27
Preconception seroconversion and maternal seronegativity at delivery do not rule out the risk of congenital toxoplasmosis. (11874899)
2002
28
Experimental model of congenital toxoplasmosis in guinea-pigs: use of quantitative and qualitative PCR for the study of maternofetal transmission. (12435068)
2002
29
Contribution of new techniques for the diagnosis of congenital toxoplasmosis. (11294576)
2001
30
Ophthalmological findings in children with congenital toxoplasmosis. Report from a Swedish prospective screening study of congenital toxoplasmosis with two years of follow-up. (11037917)
2000
31
Value of prenatal diagnosis and early postnatal diagnosis of congenital toxoplasmosis: retrospective study of 110 cases. (10449471)
1999
32
Congenital toxoplasmosis: efficacy of maternal treatment with spiramycin alone. (9602252)
1998
33
Congenital toxoplasmosis: value of prenatal treatment with pyrimethamine-sulfadoxine combination. (9706662)
1998
34
Resolution of intracranial calcifications in infants with treated congenital toxoplasmosis. (8668790)
1996
35
Urine sample used for congenital toxoplasmosis diagnosis by PCR. (8880481)
1996
36
Diagnosis of congenital toxoplasmosis by immunoblotting and relationship with other methods. (7650171)
1995
37
Rat model of congenital toxoplasmosis: rate of transmission of three Toxoplasma gondii strains to fetuses and protective effect of a chronic infection. (8418062)
1993
38
Economic evaluation of preventive programmes against congenital toxoplasmosis. (1290083)
1992
39
Congenital toxoplasmosis: a large survey in western Australia. (2046568)
1991
40
Difficulties in the diagnosis of congenital toxoplasmosis by cordocentesis. (1777471)
1991
41
Prevention of congenital toxoplasmosis; experience in The Netherlands. (2628371)
1989
42
Congenital toxoplasmosis in a 15 day-old infant. A case report. (2682469)
1989
43
Myositis in mice with congenital toxoplasmosis. (3256280)
1988
44
Blastogenic responses of splenic lymphocytes to toxoplasmal and retinal antigens and T- and B-cell mitogens in mice with congenital ocular toxoplasmosis. (3872640)
1985
45
Congenital toxoplasmosis: a prospective survey in Brussels. (6722061)
1984
46
Congenital toxoplasmosis: histological and ultrastructural study. (7085242)
1982
47
A study of cataract in murine congenital toxoplasmosis. (7082079)
1982
48
Congenital toxoplasmosis: late appearance of retinal lesions after treatment. (525345)
1979
49
An estimation of the incidence of congenital toxoplasmosis in SALo Paulo city, Brasil. (951563)
1976
50
Letter: Congenital toxoplasmosis. (4852730)
1974

Genetic Variations for Congenital Toxoplasmosis

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Expression for genes affiliated with Congenital Toxoplasmosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Toxoplasmosis

Search GEO for disease gene expression data for Congenital Toxoplasmosis.

Pathways for genes affiliated with Congenital Toxoplasmosis

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Sources:
29KEGG
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Pathways related to Congenital Toxoplasmosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CD79A, CD40LG

Compounds for genes affiliated with Congenital Toxoplasmosis

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Congenital Toxoplasmosis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1sulfolipid i4410.0CD40LG, CD79A
2sandoglobulin4410.0CD40LG, CD79A
3gamma globulin4410.0CD40LG, CD79A
4vancomycin44 1111.0CD79A, CD40LG
5pneumococcal4410.0CD79A, CD40LG
6blys4410.0CD40LG, CD79A
7tuberculin4410.0CD40LG, CD79A
8praziquantel44 1111.0CD79A, CD40LG
9hemocyanin4410.0CD79A, CD40LG
10gliadin4410.0CD79A, CD40LG
11pmma4410.0CD79A, CD40LG
12silicone4410.0CD79A, CD40LG
13mannan449.9CD40LG, CD79A
14okt3449.9CD79A, CD40LG
15glutaraldehyde449.9CD40LG, CD79A
16sulfasalazine44 28 49 1112.9CD79A, CD40LG
17cardiolipin44 1110.9CD79A, CD40LG
18mycophenolate mofetil44 49 1111.9CD40LG, CD79A
19valproate449.9CD40LG, CD79A
20phenytoin44 49 28 1112.9CD79A, CD40LG
21cytidine44 11 2411.8CD79A, CD40LG
22anti-fungal449.8CD40LG, CD79A
23ivig449.8CD79A, CD40LG
24doxycycline44 1110.8CD79A, CD40LG
25vitamin b12449.7CD79A, CD40LG
26alginate449.7CD79A, COL2A1
27neopterin449.7CD79A, CD40LG
28rituximab44 49 1111.6CD40LG, CD79A
29polyethylene glycol449.6CD79A, CD40LG
30allergens449.5CD79A, CD40LG
31ascorbic acid44 2410.3COL2A1, CD40LG, CD79A
32theophylline44 28 11 2412.3CD79A, CD40LG

GO Terms for genes affiliated with Congenital Toxoplasmosis

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16Gene Ontology
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Biological processes related to Congenital Toxoplasmosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:0301839.6CD79A, CD40LG
2B cell proliferationGO:0421009.3CD79A, CD40LG

Products for genes affiliated with Congenital Toxoplasmosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Toxoplasmosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet