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 anophthalmos/anophthalmia/microphthalmos/microphthalmia, intrauterine growth retardation and abnormal hepatic enzymes/transaminases. 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, 48Orphanet, 44Novoseek, 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)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • intrauterine growth retardation
  • abnormal hepatic enzymes/transaminases
  • prematurity
  • lymphadenopathy/polyadenopathies
  • acute diarrhea
  • antenatal exposure : toxoplasmosis
  • dilated cerebral ventricles without hydrocephaly
  • thrombocytopenia/thrombopenia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nystagmus
  • intracranial/cerebral calcifications
  • hydrocephaly
  • hypotonia
  • hearing loss/hypoacusia/deafness
  • hepatomegaly/liver enlargement (excluding storage disease)
  • mild visual loss/impaired visual acuity
  • retinitis pigmentosa/retinal pigmentary changes
  • microcephaly
  • visual loss/blindness/amblyopia
  • cardiomegaly
  • ascitis
  • hepatitis/icterus/cholestasis
  • anaemia
  • macules
  • seizures/epilepsy/absences/spasms/status epilepticus

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, Fetal brain, Spinal cord, Whole blood, Monocytes, B cells, Pituitary

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
First isolation and genetic characterization of a Toxoplasma gondii strain from a symptomatic human case of congenital toxoplasmosis in Romania. (23537840)
2013
2
Otopathology in congenital toxoplasmosis. (23598697)
2013
3
Genetic characterization of Toxoplasma gondii revealed highly diverse genotypes for isolates from newborns with congenital toxoplasmosis in southeastern Brazil. (23284022)
2013
4
Comparative assessment of a commercial kit and two laboratory-developed PCR assays for molecular diagnosis of congenital toxoplasmosis. (23035184)
2012
5
Toxoplasmosis: diagnosis, treatment, and prevention in congenitally exposed infants. (22018426)
2011
6
Congenital toxoplasmosis--a report on the Danish neonatal screening programme 1999-2007. (20585987)
2010
7
Clinical relevance of placenta examination for the diagnosis of congenital toxoplasmosis. (19858771)
2010
8
Murine neonatal infection provides an efficient model for congenital ocular toxoplasmosis. (19755119)
2010
9
Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia. (21191727)
2010
10
A case of recurrence of congenital ocular toxoplasmosis with frosted branch angiitis (ocular toxoplasmosis with frosted branch angiitis). (21319040)
2010
11
Prenatal education for congenital toxoplasmosis. (19160267)
2009
12
Congenital toxoplasmosis: the importance of the western blot method to avoid unnecessary therapy in potentially infected newborns. (18616630)
2008
13
Congenital toxoplasmosis. (19450322)
2008
14
Screening for congenital toxoplasmosis: accuracy of immunoglobulin M and immunoglobulin A tests after birth. (17362565)
2007
15
Cord blood screening for congenital toxoplasmosis in northwestern Switzerland, 1982-1999. (16462288)
2006
16
Congenital toxoplasmosis from an HIV-infected woman as a result of reactivation. (16043225)
2006
17
Neuroendocrine abnormalities in a neonate with congenital toxoplasmosis. (17220066)
2006
18
Isolated central diabetes insipidus in a newborn with congenital toxoplasmosis. (16562592)
2006
19
Determinants of response to a parent questionnaire about development and behaviour in 3 year olds: European multicentre study of congenital toxoplasmosis. (15998464)
2005
20
Congenital toxoplasmosis in UberlAcndia, MG, Brazil. (14984171)
2004
21
Population pharmacokinetics of pyrimethamine and sulfadoxine in children with congenital toxoplasmosis. (15151519)
2004
22
Evaluation of a commercial IgG/IgM Western blot assay for early postnatal diagnosis of congenital toxoplasmosis. (12649715)
2003
23
Congenital toxoplasmosis: necessity of clinical and ultrasound follow-up despite negative amniocentesis. (14692001)
2003
24
Incidence of congenital toxoplasmosis in southern Brazil: a prospective study. (12870064)
2003
25
Screening for congenital toxoplasmosis. (12073432)
2002
26
Congenital toxoplasmosis: prenatal diagnosis, treatment and postnatal outcome. (10327137)
1999
27
Common questions about the diagnosis and management of congenital toxoplasmosis. (20212976)
1999
28
Screening for congenital toxoplasmosis in Brazil. (11400784)
1999
29
Diagnosis of congenital toxoplasmosis in the neonatal period: A multicenter evaluation. (10586174)
1999
30
Prenatal diagnosis of congenital toxoplasmosis by PCR: extended experience. (9602492)
1998
31
Value of cerebrospinal fluid cytochemical examination for the diagnosis of congenital toxoplasmosis at birth in France. (9726345)
1998
32
Prenatal diagnosis of congenital toxoplasmosis transmitted by an immunocompetent woman infected before conception. Reims Toxoplasmosis Group. (9826901)
1998
33
Low incidence of congenital toxoplasmosis in children born to women infected with human immunodeficiency virus. European Collaborative Study and Research Network on Congenital Toxoplasmosis. (8886688)
1996
34
Congenital toxoplasmosis complicated by central diabetes insipidus in an infant with Down syndrome. (8907349)
1996
35
Recurrent congenital toxoplasmosis in a woman with lupus erythematosus. (8750300)
1995
36
A survey of health education material for the primary prevention of congenital toxoplasmosis. (7532519)
1995
37
Survey of local policies for prevention of congenital toxoplasmosis. (7527277)
1994
38
Congenital toxoplasmosis. (1393101)
1992
39
What is known about the prevention of congenital toxoplasmosis? (1975344)
1990
40
Prenatal diagnosis of congenital toxoplasmosis. (2216222)
1990
41
Economic and public health considerations of congenital toxoplasmosis in lambs. (2599957)
1989
42
Host-parasite relationship in the brains of mice with congenital toxoplasmosis. (3204455)
1988
43
Congenital toxoplasmosis in premature twins. (3699620)
1986
44
Clinicopathological features of a congenital murine model of ocular toxoplasmosis. (3519370)
1986
45
Congenital toxoplasmosis. (6414600)
1983
46
Congenital toxoplasmosis associated with acquired oculomotor nerve (CN III) palsy. (7175624)
1982
47
Toxoplasmosis and pregnancy: the prevention of congenital toxoplasmosis. (7333697)
1981
48
Congenital ocular toxoplasmosis. Possible occurrence in siblings. (348171)
1978
49
Contribution to the early diagnosis of congenital toxoplasmosis. (597563)
1977
50
Congenital toxoplasmosis; diagnostic importance of chorioretinitis. (13575147)
1958

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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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 i4410.0CD79A, CD40LG
2sandoglobulin4410.0CD79A, CD40LG
3gamma globulin4410.0CD79A, CD40LG
4vancomycin44 1111.0CD79A, CD40LG
5pneumococcal4410.0CD40LG, CD79A
6blys4410.0CD79A, CD40LG
7tuberculin4410.0CD79A, CD40LG
8praziquantel44 1111.0CD79A, CD40LG
9hemocyanin4410.0CD40LG, CD79A
10gliadin4410.0CD79A, CD40LG
11pmma4410.0CD79A, CD40LG
12silicone4410.0CD79A, CD40LG
13mannan449.9CD79A, CD40LG
14okt3449.9CD79A, CD40LG
15glutaraldehyde449.9CD40LG, CD79A
16sulfasalazine44 28 49 1112.9CD79A, CD40LG
17cardiolipin44 1110.9CD79A, CD40LG
18mycophenolate mofetil44 49 1111.9CD40LG, CD79A
19valproate449.9CD79A, CD40LG
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
27neopterin449.7CD40LG, CD79A
28rituximab44 49 1111.6CD79A, CD40LG
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