MCID: CNG021
MIFTS: 52

Congenital Toxoplasmosis

Categories: Rare diseases, Fetal diseases, Neuronal diseases, Infectious diseases

Aliases & Classifications for Congenital Toxoplasmosis

MalaCards integrated aliases for Congenital Toxoplasmosis:

Name: Congenital Toxoplasmosis 12 50 56 14
Toxoplasmosis, Congenital 42 69
Toxoplasma Embryofetopathy 56
Toxoplasmosis Congenital 52
Toxoplasmosis - Congen. 12
Toxoplasma Embryopathy 56

Characteristics:

Orphanet epidemiological data:

56
congenital toxoplasmosis
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United States); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal;

Classifications:



Summaries for Congenital Toxoplasmosis

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 858disease definitioncongenital toxoplasmosis (ctx) is an embryo-fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by toxoplasma gondii (tg).epidemiologygiven its infectious origin, incidence of ctx is variable over time and geographically. screening policies and methods also influence prevalence calculation. a low estimate of the overall prevalence might be of 1:3,030 births, with symptomatic cases at 1:29,000 births.clinical descriptionclinical presentation is highly variable. earlier infection is generally more severe but less frequent. infections in the first trimester may result in miscarriage or fetal death in utero, whereas later ones may be limited to ocular anomalies. intracranial calcifications, micro- or macrocephaly, ventricular dilatation and hydrocephalus, hepatomegaly, splenomegaly, cardiomegaly, ascites and intrauterine growth retardation can be observed in infected fetuses. when present, clinical manifestations at birth are maculopapular rash, jaundice, generalized lymphadenopathy, organomegaly, central nervous system anomalies and hyperbilirubinemia, anemia, and thrombocytopenia. the first neurologic manifestation is seizures; nystagmus, hypotonia and, later, delay of developmental milestones acquisition can be seen. the chorioretinitis - intracranial calcifications - hydrocephalus triad is present in 10% of cases. ocular involvement may develop after months or years, most frequently with chorioretinitis, followed by microphthalmia and strabismus. visual impairment is highly dependent on the parasite genotype, and probably on prenatal and postnatal treatments.etiologyctx is caused by the mother's primo-infection by tg, an intracellular protozoan parasite of the apicomplexa phylum, and transmission to the fetus by trans-placental infection. nearly 25% of exposed fetuses are infected. mother is infected by tg through ingestion of ooccysts present in cat faeces and soil, or of cysts present in uncooked meat.diagnostic methodsdiagnosis relies on evidence of infection in the fetus, the infant or the child with a history of maternal primo-infection during pregnancy or up to 6 months before conception. given the poor specificity of clinical signs observed in tg infection, serological findings and pcr amplification of tg specific sequences are the main diagnostic clues. rt-pcr targeting repetitive dna segments was reported to be more sensitive and not less specific than previous tests.differential diagnosisdifferential diagnosis includes other congenital infections (rubella, cmv, hsv1 and hsv2, regrouped with tg infection in the torch syndrome) and pseudo-torch and aicardi-goutières syndromes (see these terms).antenatal diagnosisfetal ultrasonography and/or magnetic resonance imaging (mri) detect and characterize brain, cardiac or placental anomalies. diagnosis is confirmed only with serological or pcr findings of tg infection in the mother and the amniotic fluid. amniocentesis should be performed at least 4 weeks after the mother's seroconversion to avoid false negative results due to latency.management and treatmentin several countries, a systematic serological status follow-up of each pregnant woman is organized in order to diagnose and treat early maternal and fetal infections. seronegative pregnant women are tested regularly to detect seroconversion, with, if needed, a spiramycin-based treatment, expected to reduce vertical transmission. a pyrimethamine-sulphonamide combination is recommended in case of confirmed fetal infection. neonates should also be treated even if they are asymptomatic at birth since complications may occur later. the benefits of prenatal and postnatal treatment remain to be assessed.prognosisprognosis is highly dependent on the parasite genotype, the gestational age at maternal infection and on the timing of prenatal and postnatal treatment.visit the orphanet disease page for more resources. last updated: 2/1/2012

MalaCards based summary : Congenital Toxoplasmosis, also known as toxoplasmosis, congenital, is related to transmitted_by and hypogonadotropism, and has symptoms including visual impairment, nystagmus and diarrhea. An important gene associated with Congenital Toxoplasmosis is CD40LG (CD40 Ligand), and among its related pathways/superpathways are NF-kappaB Signaling and ICos-ICosL Pathway in T-Helper Cell. The drugs Sulfadiazine and Pyrimethamine have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and bone, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.

Related Diseases for Congenital Toxoplasmosis

Diseases in the Toxoplasmosis family:

Congenital Toxoplasmosis

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

(show top 50) (show all 205)
id Related Disease Score Top Affiliating Genes
1 transmitted_by 30.2 CD40LG CD79A
2 hypogonadotropism 30.2 CD40LG CD79A
3 toxoplasmosis 11.5
4 alcoholic neuropathy 10.6 CD40LG CD79A
5 calloso-genital dysplasia 10.6 CD40LG CD79A
6 variola major 10.6 CD40LG CD79A
7 mu chain disease 10.6 CD40LG CD79A
8 rabies 10.6 CD40LG CD79A
9 familial retinoblastoma 10.6 CD40LG CD79A
10 anti-basement membrane glomerulonephritis 10.6 CD40LG CD79A
11 microinvasive cervical squamous cell carcinoma 10.6 CD40LG CD79A
12 fetal erythroblastosis 10.6 CD40LG CD79A
13 spinal canal and spinal cord meningioma 10.6 CD40LG CD79A
14 trichostrongyloidiasis 10.6 CD40LG CD79A
15 leukodystrophy 10.6 CD40LG CD79A
16 retinal microaneurysm 10.6 CD40LG CD79A
17 heart septal defect 10.6 CD40LG CD79A
18 cryptorchidism arachnodactyly mental retardation 10.6 CD40LG CD79A
19 acute kidney tubular necrosis 10.6 CD40LG CD79A
20 secretory meningioma 10.6 CD40LG CD79A
21 hodgkin's lymphoma, nodular sclerosis 10.6 CD40LG CD79A
22 imperforate oropharynx-costo vetebral anomalies 10.6 CD40LG CD79A
23 malignant otitis externa 10.6 CD40LG CD79A
24 transient hypogammaglobulinemia 10.6 CD40LG CD79A
25 benign epilepsy with centrotemporal spikes 10.6 CD40LG CD79A
26 tongue cancer 10.6 CD40LG CD79A
27 hydrops of gallbladder 10.6 CD40LG CD79A
28 gamma heavy chain disease 10.6 CD40LG CD79A
29 diabetic angiopathy 10.6 CD40LG CD79A
30 rosacea conjunctivitis 10.6 CD40LG CD79A
31 viral meningitis 10.6 CD40LG CD79A
32 heart fibrosarcoma 10.6 CD40LG CD79A
33 alopecia areata 10.6 CD40LG CD79A
34 kidney carcinoma in situ 10.6 CD40LG CD79A
35 cardiac tuberculosis 10.6 CD40LG CD79A
36 dumping syndrome 10.6 CD40LG CD79A
37 leiomyosarcoma 10.6 CD40LG CD79A
38 periarthritis 10.6 CD40LG CD79A
39 generalized atherosclerosis 10.6 CD40LG CD79A
40 colonic benign neoplasm 10.6 CD40LG CD79A
41 cerebral neuroblastoma 10.6 CD40LG CD79A
42 pancreatic vasoactive intestinal peptide producing tumor 10.6 CD40LG CD79A
43 oculo-cerebral dysplasia 10.6 CD40LG CD79A
44 aniseikonia 10.6 CD40LG CD79A
45 gestational diabetes 10.6 CD40LG CD79A
46 polyneuropathy due to drug 10.6 CD40LG CD79A
47 chronic mucocutaneous candidiasis 10.6 CD40LG CD79A
48 cutaneous ganglioneuroma 10.6 CD40LG CD79A
49 acute hemorrhagic encephalitis 10.6 CD40LG CD79A
50 mental retardation, autosomal dominant 19 10.6 CD40LG CD79A

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



Diseases related to Congenital Toxoplasmosis

Symptoms & Phenotypes for Congenital Toxoplasmosis

Human phenotypes related to Congenital Toxoplasmosis:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002014
4 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
5 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
7 jaundice 56 32 occasional (7.5%) Occasional (29-5%) HP:0000952
8 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
10 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
11 thrombocytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001873
12 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
13 cardiomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001640
14 intrauterine growth retardation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001511
15 premature birth 56 32 hallmark (90%) Very frequent (99-80%) HP:0001622
16 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
17 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
18 lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002716
19 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
20 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
21 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
22 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002514
23 failure to thrive in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001531
24 elevated hepatic transaminases 56 32 occasional (7.5%) Occasional (29-5%) HP:0002910
25 abnormality of retinal pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007703
26 macule 56 32 occasional (7.5%) Occasional (29-5%) HP:0012733

MGI Mouse Phenotypes related to Congenital Toxoplasmosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 ABCA4 CD40LG CD79A HLA-DQA1 HLA-DQB1 NLRP1
2 immune system MP:0005387 9.1 CD40LG CD79A COL2A1 HLA-DQA1 HLA-DQB1 NLRP1

Drugs & Therapeutics for Congenital Toxoplasmosis

Drugs for Congenital Toxoplasmosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfadiazine Approved, Vet_approved Phase 4,Phase 3 68-35-9 5215
2
Pyrimethamine Approved, Vet_approved Phase 4,Phase 3 58-14-0 4993
3
Spiramycin Approved Phase 4,Phase 3 24916-50-5
4
Levoleucovorin Approved Phase 4,Phase 3 68538-85-2
5
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 143 6006
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
7 Folic Acid Antagonists Phase 4,Phase 3
8 Vitamin B Complex Phase 4,Phase 3
9 Anti-Bacterial Agents Phase 4,Phase 3
10 Anti-Infective Agents Phase 4,Phase 3
11 Antimalarials Phase 4,Phase 3
12 Antiprotozoal Agents Phase 4,Phase 3
13 Antiparasitic Agents Phase 4,Phase 3
14 Micronutrients Phase 4
15 Trace Elements Phase 4
16 Vitamins Phase 4
17 Antidotes Phase 4
18 Protective Agents Phase 4
19 Bone Density Conservation Agents Phase 4
20 Calcium, Dietary Phase 4
21 Folate Nutraceutical Phase 4,Phase 3
22 Vitamin B9 Nutraceutical Phase 4,Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis Recruiting NCT00004317 Phase 4 Leucovorin calcium;Pyrimethamine;Spiramycin;Sulfadiazine
2 Assessment of Two Therapeutic Strategies in the Treatment of Children With Congenital Toxoplasmosis Unknown status NCT01202500 Phase 3
3 Prevention of Congenital Toxoplasmosis With Pyrimethamine + Sulfadiazine Versus Spiramycine During Pregnancy Completed NCT01189448 Phase 3 Pyrimethamine/Sulfadiazine;Spiramycine
4 Lyon Cohort of Maternal and Congenital Toxoplasma Infections Recruiting NCT02936921

Search NIH Clinical Center for Congenital Toxoplasmosis

Cochrane evidence based reviews: toxoplasmosis, congenital

Genetic Tests for Congenital Toxoplasmosis

Anatomical Context for Congenital Toxoplasmosis

MalaCards organs/tissues related to Congenital Toxoplasmosis:

39
Testes, Brain, Bone, Eye, Placenta, Pituitary, Fetal Brain

Publications for Congenital Toxoplasmosis

Articles related to Congenital Toxoplasmosis:

(show top 50) (show all 575)
id Title Authors Year
1
Diagnosis of congenital toxoplasmosis in a renal transplant recipient mother. ( 28851620 )
2017
2
Early serum biomarker networks in infants with distinct retinochoroidal lesion status of congenital toxoplasmosis. ( 28254558 )
2017
3
Toxoplasma genotyping in congenital toxoplasmosis in Upper Egypt: evidence of type I strain. ( 28668985 )
2017
4
IgG Avidity Test in Congenital Toxoplasmosis Diagnoses in Newborns. ( 28629167 )
2017
5
Genotyping of Toxoplasma gondii strain directly from human CSF samples of congenital toxoplasmosis clinical case. ( 28368078 )
2017
6
High Frequency of Bone Marrow Depression During Congenital Toxoplasmosis Therapy in a Cohort of Children Identified By Neonatal Screening in Minas Gerais, Brazil. ( 28151845 )
2017
7
Ocular Lesions in Congenital Toxoplasmosis in Santa Isabel do IvaA-, ParanA!, Brazil. ( 28640004 )
2017
8
Development of a murine vertical transmission model for Toxoplasma gondii oocyst infection and studies on the efficacy of bumped kinase inhibitor (BKI)-1294 and the naphthoquinone buparvaquone against congenital toxoplasmosis. ( 28486633 )
2017
9
Congenital Toxoplasmosis in France and the United States: One Parasite, Two Diverging Approaches. ( 28207736 )
2017
10
Neuroimaging Findings of Congenital Toxoplasmosis, Cytomegalovirus, and Zika Virus Infections: A Comparison of Three Cases. ( 28780216 )
2017
11
Sulfadoxine-Pyrimethamine Combination in Congenital Toxoplasmosis. ( 28187118 )
2017
12
Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving. ( 28692640 )
2017
13
In Reply: Sulfadoxine-Pyrimethamine Combination in Congenital Toxoplasmosis. ( 28187119 )
2017
14
Public Health Impact of Congenital Toxoplasmosis and Cytomegalovirus Infection in Belgium, 2013: A Systematic Review and Data Synthesis. ( 28605518 )
2017
15
Establishing tools for early diagnosis of congenital toxoplasmosis: Flow cytometric IgG avidity assay as a confirmatory test for neonatal screening. ( 28827190 )
2017
16
Congenital Toxoplasmosis. ( 28254246 )
2017
17
Association of Parasite Load Levels in Amniotic Fluid With Clinical Outcome in Congenital Toxoplasmosis. ( 28697120 )
2017
18
The disease burden of congenital toxoplasmosis in Denmark, 2014. ( 28558051 )
2017
19
Diagnosis, Treatment, and Prevention of Congenital Toxoplasmosis in the United States. ( 28138010 )
2017
20
Late diagnosis of congenital toxoplasmosis based on serological follow-up: A case report. ( 27956093 )
2016
21
Laboratory diagnosis of congenital toxoplasmosis. ( 27147724 )
2016
22
Congenital Toxoplasmosis in Chronically Infected and Subsequently Challenged Ewes. ( 27788185 )
2016
23
Prognosis of Fetal Parenchymal Cerebral Lesions without Ventriculomegaly in Congenital Toxoplasmosis Infection. ( 27093552 )
2016
24
HLA-DQA1/B1 alleles as putative susceptibility markers in congenital toxoplasmosis. ( 26856406 )
2016
25
ANTI-TOXOPLASMA ACTIVITY OF ESTRAGOLE AND THYMOL IN MURINE MODELS OF CONGENITAL AND NON-CONGENITAL TOXOPLASMOSIS. ( 26836848 )
2016
26
Outbreak of ovine congenital toxoplasmosis in Iran, confirmed by different diagnostic methods. ( 27065616 )
2016
27
Performance of Polymerase Chain Reaction Analysis of the Amniotic Fluid of Pregnant Women for Diagnosis of Congenital Toxoplasmosis: A Systematic Review and Meta-Analysis. ( 27055272 )
2016
28
Incidence of Symptomatic Congenital Toxoplasmosis During 10 Years in a Brazilian Hospital. ( 27455439 )
2016
29
Vertical transmission and fetal damage in animal models of congenital toxoplasmosis: A systematic review. ( 27198800 )
2016
30
Treatment of Congenital Toxoplasmosis: Safety of the Sulfadoxine-Pyrimethamine Combination in Children Based on a Method of Causality Assessment. ( 26906163 )
2016
31
Effect of Antenatal Treatment on the Severity of Congenital Toxoplasmosis. ( 26689954 )
2016
32
Congenital toxoplasmosis: Clinical features, outcomes, treatment, and prevention. ( 27722099 )
2016
33
Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy. ( 26945416 )
2016
34
IgA and IgG1 reactivities assessed by flow cytometry mirror clinical aspects of infants with ocular congenital toxoplasmosis. ( 26592658 )
2016
35
Macular scar secondary to congenital toxoplasmosis. ( 28154680 )
2016
36
Cytokine Signatures Associated With Early Onset, Active Lesions and Late Cicatricial Events of Retinochoroidal Commitment in Infants With Congenital Toxoplasmosis. ( 26946460 )
2016
37
Evaluation of the western blotting method for the diagnosis of congenital toxoplasmosis. ( 27504975 )
2016
38
Possibilities for Immunomodulation in Congenital Toxoplasmosis. ( 27357341 )
2016
39
Ocular manifestation of congenital toxoplasmosis, clinical implication - case report. ( 27306134 )
2016
40
Congenital toxoplasmosis and pregnancy malaria detection post-partum: Effective diagnosis and its implication for efficient management of congenital infection. ( 26264261 )
2015
41
Possible role of TLR4 and TLR9 SNPs in protection against congenital toxoplasmosis. ( 26254559 )
2015
42
Congenital toxoplasmosis: an in-depth density-equalizing mapping analysis to explore its global research architecture. ( 26691532 )
2015
43
Assessment of the IgA immunosorbent agglutination assay for the diagnosis of congenital toxoplasmosis on a series of 145 toxoplasmic seroconversions. ( 25673306 )
2015
44
The rural-urban effect on spatial genetic structure of type II Toxoplasma gondii strains involved in human congenital toxoplasmosis, France, 2002-2009. ( 26305624 )
2015
45
Mesial Temporal Lobe Epilepsy in Congenital Toxoplasmosis: A Case Report. ( 26157672 )
2015
46
Contribution of neonatal amniotic fluid testing to diagnosis of congenital toxoplasmosis. ( 25694528 )
2015
47
Severe congenital toxoplasmosis: a case report and strain characterization. ( 25685568 )
2015
48
Evaluation of colostrum as an alternative biological sample for the diagnosis of human congenital toxoplasmosis. ( 26573138 )
2015
49
Congenital toxoplasmosis: an uncommon disease in Thailand. ( 25547178 )
2015
50
Prenatal education for congenital toxoplasmosis. ( 26493047 )
2015

Variations for Congenital Toxoplasmosis

Expression for Congenital Toxoplasmosis

Search GEO for disease gene expression data for Congenital Toxoplasmosis.

Pathways for Congenital Toxoplasmosis

GO Terms for Congenital Toxoplasmosis

Cellular components related to Congenital Toxoplasmosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DQA1 HLA-DQB1
2 transport vesicle membrane GO:0030658 9.26 HLA-DQA1 HLA-DQB1
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DQA1 HLA-DQB1
4 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQA1 HLA-DQB1
5 MHC class II protein complex GO:0042613 8.62 HLA-DQA1 HLA-DQB1

Biological processes related to Congenital Toxoplasmosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation GO:0019882 9.26 HLA-DQA1 HLA-DQB1
2 B cell proliferation GO:0042100 9.16 CD40LG CD79A
3 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.96 HLA-DQA1 HLA-DQB1
4 T cell costimulation GO:0031295 8.8 CD40LG HLA-DQA1 HLA-DQB1

Molecular functions related to Congenital Toxoplasmosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.96 HLA-DQA1 HLA-DQB1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DQA1 HLA-DQB1

Sources for Congenital Toxoplasmosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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