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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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 based summary: Congenital Toxoplasmosis, also known as toxoplasma embryofetopathy, is related to toxoplasmosis and rubella, and has symptoms including retinitis pigmentosa/retinal pigmentary changes, prematurity and antenatal exposure : toxoplasmosis. 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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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Congenital Toxoplasmosis, Aliases & Descriptions:

Name: Congenital Toxoplasmosis 8 42 10 48
Toxoplasma Embryofetopathy 48
Toxoplasmosis, Congenital 62
 
Toxoplasmosis Congenital 44
Toxoplasmosis - Congen. 8
Toxoplasma Embryopathy 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:13336
MeSH34 D014125
NCIt39 C50503
ICD10 via Orphanet26 P37.1
UMLS via Orphanet63 C0040560
MESH via Orphanet35 D014125
ICD1025 P37.1

Related Diseases for Congenital Toxoplasmosis

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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 75)
idRelated DiseaseScoreTop Affiliating Genes
1toxoplasmosis32.5CD40LG, CD79A
2rubella30.4CD40LG, CD79A
3lupus erythematosus30.3CD79A, CD40LG
4chorioretinitis10.5
5q fever10.4CD79A
6syphilis10.4CD79A
7macroglobulinemia10.4CD79A
8cryptosporidiosis10.4CD79A
9polyarteritis nodosa10.4CECR1
10diabetes insipidus10.4
11retinitis10.4
12immunoglobulin g deficiency10.3CD40LG, CD79A
13selective iga deficiency disease10.3CD79A, CD40LG
14immunodeficiency, centromere instability and facial anomalies syndrome10.3CD40LG, CD79A
15immunoglobulin alpha deficiency10.3CD40LG, CD79A
16immunodeficiency with hyper igm type 110.3CD79A, CD40LG
17bruton-type agammaglobulinemia10.3CD40LG, CD79A
18cryoglobulinemia10.3CD40LG, CD79A
19autoimmune hemolytic anemia10.3CD79A, CD40LG
20infectious mononucleosis10.3CD79A, CD40LG
21agammaglobulinemia10.2CD79A, CD40LG
22cataract10.2
23cerebritis10.2
24common variable immunodeficiency10.2CD40LG, CD79A
25ankylosing spondylitis10.2CD79A, CD40LG
26antiphospholipid syndrome10.2CD79A, CD40LG
27measles10.2CD40LG, CD79A
28schistosomiasis10.2CD40LG, CD79A
29polyneuropathy10.2CD79A, CD40LG
30lupus nephritis10.2CD40LG, CD79A
31connective tissue disease10.2CD40LG, CD79A
32berger disease10.2CD40LG, CD79A
33nephritis10.2CD79A, CD40LG
34sjogren's syndrome10.2CD40LG, CD79A
35primary biliary cirrhosis10.2CD40LG, CD79A
36myelitis10.2
37ocular toxoplasmosis10.2
38cytomegalovirus infection10.2
39vasculitis10.2CD40LG, CD79A
40rheumatic disease10.1COL2A1, CD40LG
41tetanus10.1CD79A, CD40LG
42congenital heart disease10.1CD40LG, CD79A
43proteinuria10.1CD40LG, CD79A
44blindness10.1ABCA4, COL2A1
45thrombocytopenia10.0CD79A, CD40LG
46west syndrome10.0
47diabetes mellitus10.0
48hydrocephalus10.0
49lymphedema10.0
50retinitis pigmentosa10.0

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



Diseases related to congenital toxoplasmosis

Symptoms for Congenital Toxoplasmosis

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Symptoms:

48 (show all 27)
  • retinitis pigmentosa/retinal pigmentary changes
  • 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
  • hydrocephaly
  • intracranial/cerebral calcifications
  • 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

HPO human phenotypes related to Congenital Toxoplasmosis:

(show all 24)
id Description Frequency HPO Source Accession
1 premature birth hallmark (90%) HP:0001622
2 abnormal retinal pigmentation hallmark (90%) HP:0007703
3 visual impairment typical (50%) HP:0000505
4 hydrocephalus occasional (7.5%) HP:0000238
5 microcephaly occasional (7.5%) HP:0000252
6 hearing impairment occasional (7.5%) HP:0000365
7 visual impairment occasional (7.5%) HP:0000505
8 nystagmus occasional (7.5%) HP:0000639
9 hypermelanotic macule occasional (7.5%) HP:0001034
10 seizures occasional (7.5%) HP:0001250
11 muscular hypotonia occasional (7.5%) HP:0001252
12 intrauterine growth retardation occasional (7.5%) HP:0001511
13 ascites occasional (7.5%) HP:0001541
14 cardiomegaly occasional (7.5%) HP:0001640
15 thrombocytopenia occasional (7.5%) HP:0001873
16 anemia occasional (7.5%) HP:0001903
17 diarrhea occasional (7.5%) HP:0002014
18 ventriculomegaly occasional (7.5%) HP:0002119
19 hepatomegaly occasional (7.5%) HP:0002240
20 cerebral calcification occasional (7.5%) HP:0002514
21 lymphadenopathy occasional (7.5%) HP:0002716
22 elevated hepatic transaminases occasional (7.5%) HP:0002910
23 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
24 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Congenital Toxoplasmosis

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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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MalaCards organs/tissues related to Congenital Toxoplasmosis:

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

Animal Models for Congenital Toxoplasmosis or affiliated genes

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MGI Mouse Phenotypes related to Congenital Toxoplasmosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.2CD40LG, CD79A, NLRP1, COL2A1
2MP:00053857.8ABCA4, COL2A1, NLRP1, CD40LG
3MP:00036317.5CD40LG, CD79A, NLRP1, COL2A1, ABCA4

Publications for Congenital Toxoplasmosis

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Articles related to Congenital Toxoplasmosis:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Incidence of congenital toxoplasmosis among infants born to HIV-coinfected mothers: case series and literature review. (25017666)
2014
2
The global burden of congenital toxoplasmosis: a systematic review. (23825877)
2013
3
Congenital toxoplasmosis. (23987732)
2013
4
A dedicated surveillance network for congenital toxoplasmosis in Greece, 2006-2009: assessment of the results. (23173875)
2012
5
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
6
Spinal Cord Lesions in Congenital Toxoplasmosis Demonstrated with Neuroimaging, Including Their Successful Treatment in an Adult. (23487348)
2012
7
Congenital toxoplasmosis--a report on the Danish neonatal screening programme 1999-2007. (20585987)
2010
8
Congenital toxoplasmosis from a chronically infected woman with reactivation of retinochoroiditis during pregnancy. (19918624)
2010
9
In utero and at birth diagnosis of congenital toxoplasmosis: use of likelihood ratios for clinical management. (19952858)
2010
10
Clinical relevance of placenta examination for the diagnosis of congenital toxoplasmosis. (19858771)
2010
11
Toxoplasma gondii antibody profile in HIV-infected pregnant women and the risk of congenital toxoplasmosis. (18855029)
2009
12
Survey of European programmes for the epidemiological surveillance of congenital toxoplasmosis. (18445459)
2008
13
Hearing loss in congenital toxoplasmosis detected by newborn screening. (18392497)
2008
14
Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. (18523590)
2008
15
Disease burden of congenital toxoplasmosis. (17479945)
2007
16
Congenital toxoplasmosis: late pregnancy infections detected by neonatal screening and maternal serological testing at delivery. (17937738)
2007
17
Risk factors for Toxoplasma gondii infection in mothers of infants with congenital toxoplasmosis: implications for prenatal management and screening. (16458668)
2006
18
Globe calcification in congenital toxoplasmosis. (16816517)
2006
19
Congenital toxoplasmosis complicated with central diabetes insipidus in the first week of life. (16492446)
2006
20
Cord blood screening for congenital toxoplasmosis in northwestern Switzerland, 1982-1999. (16462288)
2006
21
Prenatal diagnosis of congenital toxoplasmosis: is there a chance for the pregnancies in settings without surveillance programs? (16260894)
2005
22
Association between congenital toxoplasmosis and preterm birth, low birthweight and small for gestational age birth. (15663394)
2005
23
Prediction of congenital toxoplasmosis by polymerase chain reaction analysis of amniotic fluid. (15842278)
2005
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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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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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:
44Novoseek, 11DrugBank, 28IUPHAR, 50PharmGKB, 24HMDB
See all sources

Compounds related to Congenital Toxoplasmosis according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1sulfolipid i4410.0CD40LG, CD79A
2sandoglobulin4410.0CD40LG, CD79A
3gamma globulin4410.0CD79A, CD40LG
4vancomycin44 1111.0CD40LG, CD79A
5pneumococcal4410.0CD40LG, CD79A
6blys4410.0CD79A, CD40LG
7tuberculin4410.0CD40LG, CD79A
8praziquantel44 1111.0CD40LG, CD79A
9hemocyanin4410.0CD79A, CD40LG
10gliadin4410.0CD40LG, CD79A
11pmma4410.0CD40LG, CD79A
12silicone4410.0CD40LG, CD79A
13mannan4410.0CD79A, CD40LG
14okt34410.0CD40LG, CD79A
15glutaraldehyde4410.0CD40LG, CD79A
16sulfasalazine28 44 50 1113.0CD79A, CD40LG
17cardiolipin44 1111.0CD40LG, CD79A
18valproate4410.0CD79A, CD40LG
19mycophenolate mofetil44 50 1112.0CD40LG, CD79A
20cytidine44 24 1112.0CD79A, CD40LG
21phenytoin44 50 28 1112.9CD79A, CD40LG
22anti-fungal449.9CD40LG, CD79A
23ivig449.9CD79A, CD40LG
24doxycycline44 1110.9CD40LG, CD79A
25vitamin b12449.9CD40LG, CD79A
26neopterin449.9CD79A, CD40LG
27allergens449.9CD40LG, CD79A
28rituximab44 50 1111.9CD40LG, CD79A
29theophylline44 28 24 1112.9CD79A, CD40LG
30polyethylene glycol449.9CD40LG, CD79A
31biotin44 24 1111.8CD40LG, CD79A
32alginate449.8CD79A, COL2A1
33thyroxine44 2410.7CD40LG, CD79A
34hyaluronic acid44 2410.7CD79A, CD40LG
35formaldehyde44 2410.6CD40LG, CD79A
36ascorbic acid44 2410.4COL2A1, CD79A, CD40LG
37folate449.3CD40LG, CD79A
38dexamethasone44 50 28 1112.2COL2A1, CD79A, CD40LG
39arginine449.2CD40LG, CD79A, COL2A1
40alanine449.1COL2A1, CD79A, CD40LG
41cysteine449.0CD40LG, CD79A, COL2A1
42retinoic acid44 249.9COL2A1, CD79A, CD40LG

GO Terms for genes affiliated with Congenital Toxoplasmosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet