MCID: CNG021
MIFTS: 57

Congenital Toxoplasmosis malady

Rare diseases, Fetal diseases, Neuronal diseases, Infectious diseases categories
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Summaries for Congenital Toxoplasmosis

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8Disease Ontology, 33MalaCards
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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 rubella, 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 phenotypes are immune system and cardiovascular system.

Aliases & Classifications for Congenital Toxoplasmosis

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital toxoplasmosis:
Inheritance: Sporadic; Age of onset: Variable


Aliases & Descriptions:

congenital toxoplasmosis 8 43 10 49
toxoplasma embryofetopathy 49
toxoplasmosis, congenital 62
toxoplasmosis congenital 45
toxoplasmosis - congen. 8
toxoplasma embryopathy 49


External Ids:

Disease Ontology8 DOID:13336
NCIt40 C50503
MeSH35 D014125
MESH via Orphanet36 D014125
ICD10 via Orphanet26 P37.1
SNOMED-CT via Orphanet59 73893000
UMLS via Orphanet63 C0040560
ICD1025 P37.1

Related Diseases for Congenital Toxoplasmosis

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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 73)
idRelated DiseaseScoreTop Affiliating Genes
1toxoplasmosis32.1CD40LG, CD79A
2rubella30.1CD40LG, CD79A
3lupus erythematosus30.0CD79A, CD40LG
4chorioretinitis10.5
5retinitis10.3
6diabetes insipidus10.3
7cerebritis10.2
8cataract10.2
9cytomegalovirus infection10.2
10myelitis10.1
11ocular toxoplasmosis10.1
12q fever10.1CD79A
13syphilis10.1CD79A
14macroglobulinemia10.1CD79A
15cryptosporidiosis10.1CD79A
16polyarteritis nodosa10.1CECR1
17immunoglobulin g deficiency10.1CD40LG, CD79A
18selective iga deficiency disease10.1CD79A, CD40LG
19immunodeficiency, centromere instability and facial anomalies syndrome10.1CD40LG, CD79A
20immunoglobulin alpha deficiency10.1CD40LG, CD79A
21immunodeficiency with hyper igm type 110.1CD79A, CD40LG
22cryoglobulinemia10.1CD40LG, CD79A
23autoimmune hemolytic anemia10.1CD79A, CD40LG
24infectious mononucleosis10.1CD79A, CD40LG
25agammaglobulinemia10.1CD79A, CD40LG
26immunodeficiency, common variable, 710.1CD79A, CD40LG
27common variable immune deficiency10.1CD40LG, CD79A
28ankylosing spondylitis10.1CD79A, CD40LG
29antiphospholipid syndrome10.1CD79A, CD40LG
30measles10.1CD40LG, CD79A
31schistosomiasis10.1CD40LG, CD79A
32polyneuropathy10.1CD79A, CD40LG
33lupus nephritis10.0CD40LG, CD79A
34connective tissue disease10.0CD40LG, CD79A
35iga glomerulonephritis10.0CD40LG, CD79A
36nephritis10.0CD79A, CD40LG
37sjogren's syndrome10.0CD40LG, CD79A
38primary biliary cirrhosis10.0CD40LG, CD79A
39vasculitis10.0CD40LG, CD79A
40rheumatic disease10.0COL2A1, CD40LG
41tetanus10.0CD79A, CD40LG
42congenital heart disease10.0CD40LG, CD79A
43proteinuria10.0CD40LG, CD79A
44blindness10.0ABCA4, COL2A1
45thrombocytopenia10.0CD79A, CD40LG
46microcephaly10.0
47hereditary elliptocytosis10.0
48retinitis pigmentosa10.0
49acquired immunodeficiency syndrome10.0
50eosinophilic meningitis10.0

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



Diseases related to congenital toxoplasmosis

Symptoms for Congenital Toxoplasmosis

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Sources:
49Orphanet
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Symptoms:

49 (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
  • dilated cerebral ventricles without 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
  • retinitis pigmentosa/retinal pigmentary changes

Drugs & Therapeutics for Congenital Toxoplasmosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Congenital Toxoplasmosis

Search NIH Clinical Center for Congenital Toxoplasmosis

Genetic Tests for Congenital Toxoplasmosis

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Anatomical Context for Congenital Toxoplasmosis

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33MalaCards
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MalaCards organs/tissues related to Congenital Toxoplasmosis:

33
Testes, Brain, Liver, Eye, Placenta, Pituitary, Whole blood, Spinal cord, Monocytes, Fetal brain

Animal Models for Congenital Toxoplasmosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Toxoplasmosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.2CD79A, COL2A1, CD40LG, NLRP1
2MP:00053857.8CD40LG, ABCA4, COL2A1, NLRP1
3MP:00036317.5ABCA4, COL2A1, NLRP1, CD79A, CD40LG

Publications for Congenital Toxoplasmosis

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Sources:
52PubMed
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Articles related to Congenital Toxoplasmosis:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
The global burden of congenital toxoplasmosis: a systematic review. (23825877)
2013
2
Congenital toxoplasmosis. (23987732)
2013
3
A dedicated surveillance network for congenital toxoplasmosis in Greece, 2006-2009: assessment of the results. (23173875)
2012
4
Toxoplasma gondii antibody profile in HIV-1-infected and uninfected pregnant women and the impact on congenital toxoplasmosis diagnosis in Rio de Janeiro, Brazil. (22552460)
2012
5
Spinal Cord Lesions in Congenital Toxoplasmosis Demonstrated with Neuroimaging, Including Their Successful Treatment in an Adult. (23487348)
2012
6
Congenital toxoplasmosis--a report on the Danish neonatal screening programme 1999-2007. (20585987)
2010
7
Congenital toxoplasmosis from a chronically infected woman with reactivation of retinochoroiditis during pregnancy. (19918624)
2010
8
In utero and at birth diagnosis of congenital toxoplasmosis: use of likelihood ratios for clinical management. (19952858)
2010
9
Clinical relevance of placenta examination for the diagnosis of congenital toxoplasmosis. (19858771)
2010
10
Toxoplasma gondii antibody profile in HIV-infected pregnant women and the risk of congenital toxoplasmosis. (18855029)
2009
11
Survey of European programmes for the epidemiological surveillance of congenital toxoplasmosis. (18445459)
2008
12
Hearing loss in congenital toxoplasmosis detected by newborn screening. (18392497)
2008
13
Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. (18523590)
2008
14
Disease burden of congenital toxoplasmosis. (17479945)
2007
15
Congenital toxoplasmosis: late pregnancy infections detected by neonatal screening and maternal serological testing at delivery. (17937738)
2007
16
Risk factors for Toxoplasma gondii infection in mothers of infants with congenital toxoplasmosis: implications for prenatal management and screening. (16458668)
2006
17
Globe calcification in congenital toxoplasmosis. (16816517)
2006
18
Congenital toxoplasmosis complicated with central diabetes insipidus in the first week of life. (16492446)
2006
19
Cord blood screening for congenital toxoplasmosis in northwestern Switzerland, 1982-1999. (16462288)
2006
20
Prenatal diagnosis of congenital toxoplasmosis: is there a chance for the pregnancies in settings without surveillance programs? (16260894)
2005
21
Association between congenital toxoplasmosis and preterm birth, low birthweight and small for gestational age birth. (15663394)
2005
22
Prediction of congenital toxoplasmosis by polymerase chain reaction analysis of amniotic fluid. (15842278)
2005
23
A comparative study of congenital toxoplasmosis between public and private hospitals from UberlAcndia, MG, Brazil. (15057340)
2004
24
Sulfadiazine and pyrimethamine in the postnatal treatment of congenital toxoplasmosis: what are the options? (15482110)
2003
25
Evaluation of a commercial IgG/IgM Western blot assay for early postnatal diagnosis of congenital toxoplasmosis. (12649715)
2003
26
Vaccination with Toxoplasma gondii SAG-1 protein is protective against congenital toxoplasmosis in BALB/c mice but not in CBA/J mice. (14573684)
2003
27
Ophthalmic outcomes after prenatal and postnatal treatment of congenital toxoplasmosis. (12788116)
2003
28
Prenatal diagnosis of congenital toxoplasmosis. (12454967)
2002
29
Congenital toxoplasmosis in Israel: to screen or not to screen. (11875985)
2002
30
Preconception seroconversion and maternal seronegativity at delivery do not rule out the risk of congenital toxoplasmosis. (11874899)
2002
31
Serological rebound in congenital toxoplasmosis: long-term follow-up of 133 children. (11585075)
2001
32
Strategy for diagnosis of congenital toxoplasmosis: evaluation of methods comparing mothers and newborns and standard methods for postnatal detection of immunoglobulin G, M, and A antibodies. (11376068)
2001
33
Ecological comparison of the risks of mother-to-child transmission and clinical manifestations of congenital toxoplasmosis according to prenatal treatment protocol. (11561963)
2001
34
Diagnostic testing for congenital toxoplasmosis. (11176568)
2001
35
Congenital toxoplasmosis, later relapses and treatment. (10419236)
1999
36
Congenital toxoplasmosis: efficacy of maternal treatment with spiramycin alone. (9602252)
1998
37
Prevention of congenital toxoplasmosis in Szeged, Hungary. (9169181)
1997
38
Congenital toxoplasmosis: specific IgM in fetal blood, cord blood and in the newborn. (8881363)
1996
39
Evaluation of the possibilities for preventing congenital toxoplasmosis. (8155214)
1994
40
Comparative value of polymerase chain reaction and conventional biological tests for the prenatal diagnosis of congenital toxoplasmosis. (1485688)
1992
41
Rat model of congenital toxoplasmosis. (1879945)
1991
42
Hypothalamo-pituitary dysfunction in congenital toxoplasmosis. (2792124)
1989
43
Congenital toxoplasmosis in Abyssinian cats. (2773276)
1989
44
Congenital toxoplasmosis: epidemiologic features and control. (3756692)
1986
45
Oral self-mutilation in a child with congenital toxoplasmosis: a clinical report. (6592553)
1984
46
Congenital toxoplasmosis associated with acquired oculomotor nerve (CN III) palsy. (7175624)
1982
47
In vitro lymphocyte stimulation with specific antigen in congenital toxoplasmosis. (7031854)
1981
48
Toxoplasmosis and pregnancy: the prevention of congenital toxoplasmosis. (7333697)
1981
49
Hydrops fetales and congenital toxoplasmosis. Value of direct immunofluorescence test. (337198)
1978
50
An estimation of the incidence of congenital toxoplasmosis in SALo Paulo city, Brasil. (951563)
1976

Variations for Congenital Toxoplasmosis

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Expression for genes affiliated with Congenital Toxoplasmosis

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Sources:
2BioGPS, 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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50PathCards, 30KEGG
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Pathways related to Congenital Toxoplasmosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Congenital Toxoplasmosis

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB
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Compounds related to Congenital Toxoplasmosis according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1sulfolipid i4510.0CD40LG, CD79A
2sandoglobulin4510.0CD40LG, CD79A
3gamma globulin4510.0CD79A, CD40LG
4vancomycin45 1111.0CD40LG, CD79A
5pneumococcal4510.0CD40LG, CD79A
6blys4510.0CD79A, CD40LG
7tuberculin4510.0CD40LG, CD79A
8praziquantel45 1111.0CD40LG, CD79A
9hemocyanin4510.0CD79A, CD40LG
10gliadin4510.0CD40LG, CD79A
11pmma4510.0CD40LG, CD79A
12silicone4510.0CD40LG, CD79A
13mannan4510.0CD79A, CD40LG
14okt34510.0CD40LG, CD79A
15glutaraldehyde4510.0CD40LG, CD79A
16sulfasalazine29 45 51 1113.0CD79A, CD40LG
17cardiolipin45 1111.0CD40LG, CD79A
18valproate4510.0CD79A, CD40LG
19mycophenolate mofetil45 51 1112.0CD40LG, CD79A
20cytidine45 24 1112.0CD79A, CD40LG
21phenytoin45 51 29 1112.9CD79A, CD40LG
22anti-fungal459.9CD40LG, CD79A
23ivig459.9CD79A, CD40LG
24doxycycline45 1110.9CD40LG, CD79A
25vitamin b12459.9CD40LG, CD79A
26neopterin459.9CD79A, CD40LG
27allergens459.9CD40LG, CD79A
28rituximab45 51 1111.9CD40LG, CD79A
29theophylline45 29 24 1112.9CD79A, CD40LG
30polyethylene glycol459.9CD40LG, CD79A
31biotin45 24 1111.8CD40LG, CD79A
32alginate459.8CD79A, COL2A1
33thyroxine45 2410.7CD40LG, CD79A
34hyaluronic acid45 2410.7CD79A, CD40LG
35formaldehyde45 2410.6CD40LG, CD79A
36ascorbic acid45 2410.4COL2A1, CD79A, CD40LG
37folate459.3CD40LG, CD79A
38dexamethasone45 51 29 1112.2COL2A1, CD79A, CD40LG
39arginine459.2CD40LG, CD79A, COL2A1
40alanine459.1COL2A1, CD79A, CD40LG
41cysteine459.0CD40LG, CD79A, COL2A1
42retinoic acid45 249.9COL2A1, CD79A, 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:0301839.6CD40LG, CD79A
2B cell proliferationGO:0421009.3CD40LG, CD79A

Products for genes affiliated with Congenital Toxoplasmosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Toxoplasmosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet