MCID: CNG021
MIFTS: 48

Congenital Toxoplasmosis malady

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

Aliases & Classifications for Congenital Toxoplasmosis

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:13336
ICD10 33 P37.1
MeSH 42 D014125
NCIt 47 C50503
Orphanet 56 ORPHA858
ICD10 via Orphanet 34 P37.1
MESH via Orphanet 43 D014125
UMLS via Orphanet 70 C0040560
UMLS 69 C0040560

Summaries for Congenital Toxoplasmosis

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.

MalaCards based summary : Congenital Toxoplasmosis, also known as toxoplasmosis, congenital, is related to toxoplasmosis and alcoholic neuropathy, and has symptoms including seizures, diarrhea and macule. An important gene associated with Congenital Toxoplasmosis is CD40LG (CD40 Ligand), and among its related pathways/superpathways are NF-kappaB Signaling and IgA-Producing B Cells in the Intestine. The drugs Levoleucovorin and Pyrimethamine have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye.

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 186)
id Related Disease Score Top Affiliating Genes
1 toxoplasmosis 11.5
2 alcoholic neuropathy 10.3 CD40LG CD79A
3 camptodactyly vertebral fusion 10.3 CD40LG CD79A
4 spinal polio 10.3 CD40LG CD79A
5 rabies 10.3 CD40LG CD79A
6 unilateral retinoblastoma 10.3 CD40LG CD79A
7 mesangial proliferative glomerulonephritis 10.3 CD40LG CD79A
8 delta chain disease 10.3 CD40LG CD79A
9 discitis 10.3 CD40LG CD79A
10 spinal canal and spinal cord meningioma 10.3 CD40LG CD79A
11 trichostrongyloidiasis 10.3 CD40LG CD79A
12 colloid adenoma 10.3 CD40LG CD79A
13 heart septal defect 10.3 CD40LG CD79A
14 cutaneous polyarteritis nodosa 10.3 CD40LG CD79A
15 mild pre-eclampsia 10.3 CD40LG CD79A
16 retinal microaneurysm 10.3 CD40LG CD79A
17 pediatric meningioma 10.3 CD40LG CD79A
18 tonsil cancer 10.3 CD40LG CD79A
19 indomethacin antenatal infection 10.3 CD40LG CD79A
20 postcricoid region cancer 10.3 CD40LG CD79A
21 beach ear 10.3 CD40LG CD79A
22 acute kidney tubular necrosis 10.3 CD40LG CD79A
23 atheroembolism of kidney 10.3 CD40LG CD79A
24 partial sensory epilepsy 10.3 CD40LG CD79A
25 ritscher-schinzel syndrome 1 10.3 CD40LG CD79A
26 diabetic angiopathy 10.3 CD40LG CD79A
27 endocarditis 10.3 CD40LG CD79A
28 muscular dystrophy 10.3 CD40LG CD79A
29 dumping syndrome 10.3 CD40LG CD79A
30 striatonigral degeneration 10.3 CD40LG CD79A
31 ciliary body spindle cell melanoma 10.3 CD40LG CD79A
32 purulent endophthalmitis 10.3 CD40LG CD79A
33 mu chain disease 10.3 CD40LG CD79A
34 generalized atherosclerosis 10.3 CD40LG CD79A
35 bursitis 10.3 CD40LG CD79A
36 syphilis 10.3 CD40LG CD79A
37 homocystinuria 10.3 CD40LG CD79A
38 mental retardation, autosomal dominant 19 10.3 CD40LG CD79A
39 hemangioma of orbit 10.3 CD40LG CD79A
40 leiomyosarcoma 10.3 CD40LG CD79A
41 immunoglobulin beta deficiency 10.3 CD40LG CD79A
42 gestational diabetes 10.3 CD40LG CD79A
43 chronic mucocutaneous candidiasis 10.3 CD40LG CD79A
44 primary thrombocytopenia 10.3 CD40LG CD79A
45 alkhurma hemorrhagic fever 10.3 CD40LG CD79A
46 polyneuropathy due to drug 10.3 CD40LG CD79A
47 colonic benign neoplasm 10.3 CD40LG CD79A
48 cutaneous ganglioneuroma 10.3 CD40LG CD79A
49 ovarian serous cystadenocarcinoma 10.3 CD40LG CD79A
50 coronary artery dissection, spontaneous 10.3 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 seizures 56 32 Occasional (29-5%) HP:0001250
2 diarrhea 56 32 Occasional (29-5%) HP:0002014
3 macule 56 32 Occasional (29-5%) HP:0012733
4 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
5 nystagmus 56 32 Occasional (29-5%) HP:0000639
6 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
7 cerebral calcification 56 32 Occasional (29-5%) HP:0002514
8 hearing impairment 56 32 Occasional (29-5%) HP:0000365
9 global developmental delay 56 32 Occasional (29-5%) HP:0001263
10 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
11 microcephaly 56 32 Occasional (29-5%) HP:0000252
12 visual impairment 56 32 Occasional (29-5%) HP:0000505
13 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
14 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
15 cardiomegaly 56 32 Occasional (29-5%) HP:0001640
16 ascites 56 32 Occasional (29-5%) HP:0001541
17 anemia 56 32 Occasional (29-5%) HP:0001903
18 elevated hepatic transaminases 56 32 Occasional (29-5%) HP:0002910
19 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
20 jaundice 56 32 Occasional (29-5%) HP:0000952
21 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
22 microphthalmia 56 32 Occasional (29-5%) HP:0000568
23 intrauterine growth retardation 56 32 Occasional (29-5%) HP:0001511
24 failure to thrive in infancy 56 32 Occasional (29-5%) HP:0001531
25 lymphadenopathy 56 32 Occasional (29-5%) HP:0002716
26 premature birth 56 32 Very frequent (99-80%) HP:0001622

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
Levoleucovorin Approved Phase 4,Phase 3 68538-85-2
2
Pyrimethamine Approved, Vet_approved Phase 4,Phase 3 58-14-0 4993
3
Spiramycin Approved Phase 4,Phase 3 24916-50-5
4
Sulfadiazine Approved, Vet_approved Phase 4,Phase 3 68-35-9 5215
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
6
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 54575, 6560146 143
7 Anti-Bacterial Agents Phase 4,Phase 3
8 Anti-Infective Agents Phase 4,Phase 3
9 Antimalarials Phase 4,Phase 3
10 Antiparasitic Agents Phase 4,Phase 3
11 Antiprotozoal Agents Phase 4,Phase 3
12 Folic Acid Antagonists Phase 4,Phase 3
13 Vitamin B Complex Phase 4,Phase 3
14 Antidotes Phase 4
15 Bone Density Conservation Agents Phase 4
16 Calcium, Dietary Phase 4
17 Micronutrients Phase 4
18 Protective Agents Phase 4
19 Trace Elements Phase 4
20 Vitamins 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
1 Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis Recruiting NCT00004317 Phase 4
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
4 Lyon Cohort of Maternal and Congenital Toxoplasma Infections Recruiting NCT02936921
5 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486

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, Eye, Placenta, Pituitary, Fetal Brain, Temporal Lobe

Publications for Congenital Toxoplasmosis

Articles related to Congenital Toxoplasmosis:

(show top 50) (show all 555)
id Title Authors Year
1
Congenital toxoplasmosis: Clinical features, outcomes, treatment, and prevention. ( 27722099 )
2016
2
Outbreak of ovine congenital toxoplasmosis in Iran, confirmed by different diagnostic methods. ( 27065616 )
2016
3
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
4
Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy. ( 26945416 )
2016
5
ANTI-TOXOPLASMA ACTIVITY OF ESTRAGOLE AND THYMOL IN MURINE MODELS OF CONGENITAL AND NON-CONGENITAL TOXOPLASMOSIS. ( 26836848 )
2016
6
Prognosis of Fetal Parenchymal Cerebral Lesions without Ventriculomegaly in Congenital Toxoplasmosis Infection. ( 27093552 )
2016
7
Laboratory diagnosis of congenital toxoplasmosis. ( 27147724 )
2016
8
Vertical transmission and fetal damage in animal models of congenital toxoplasmosis: A systematic review. ( 27198800 )
2016
9
Incidence of Symptomatic Congenital Toxoplasmosis During 10 Years in a Brazilian Hospital. ( 27455439 )
2016
10
Effect of Antenatal Treatment on the Severity of Congenital Toxoplasmosis. ( 26689954 )
2016
11
Ocular manifestation of congenital toxoplasmosis, clinical implication - case report. ( 27306134 )
2016
12
IgA and IgG1 reactivities assessed by flow cytometry mirror clinical aspects of infants with ocular congenital toxoplasmosis. ( 26592658 )
2016
13
Cytokine Signatures Associated With Early Onset, Active Lesions and Late Cicatricial Events of Retinochoroidal Commitment in Infants With Congenital Toxoplasmosis. ( 26946460 )
2016
14
Congenital Toxoplasmosis in Chronically Infected and Subsequently Challenged Ewes. ( 27788185 )
2016
15
Treatment of Congenital Toxoplasmosis: Safety of the Sulfadoxine-Pyrimethamine Combination in Children Based on a Method of Causality Assessment. ( 26906163 )
2016
16
HLA-DQA1/B1 alleles as putative susceptibility markers in congenital toxoplasmosis. ( 26856406 )
2016
17
Possibilities for Immunomodulation in Congenital Toxoplasmosis. ( 27357341 )
2016
18
Evaluation of the western blotting method for the diagnosis of congenital toxoplasmosis. ( 27504975 )
2016
19
Late diagnosis of congenital toxoplasmosis based on serological follow-up: A case report. ( 27956093 )
2016
20
Congenital toxoplasmosis: an uncommon disease in Thailand. ( 25547178 )
2015
21
Amniocentesis for the detection of congenital toxoplasmosis: results from the nationwide Austrian prenatal screening program. ( 25596783 )
2015
22
Place of Interferon-I^ Assay for Diagnosis of Congenital Toxoplasmosis. ( 26780025 )
2015
23
Use of IgG in oral fluid to monitor infants with suspected congenital toxoplasmosis. ( 25651923 )
2015
24
Severe congenital toxoplasmosis: a case report and strain characterization. ( 25685568 )
2015
25
Prenatal education for congenital toxoplasmosis. ( 26493047 )
2015
26
Mesial Temporal Lobe Epilepsy in Congenital Toxoplasmosis: A Case Report. ( 26157672 )
2015
27
Possible role of TLR4 and TLR9 SNPs in protection against congenital toxoplasmosis. ( 26254559 )
2015
28
Contribution of neonatal amniotic fluid testing to diagnosis of congenital toxoplasmosis. ( 25694528 )
2015
29
Congenital toxoplasmosis: an in-depth density-equalizing mapping analysis to explore its global research architecture. ( 26691532 )
2015
30
Congenital toxoplasmosis and pregnancy malaria detection post-partum: Effective diagnosis and its implication for efficient management of congenital infection. ( 26264261 )
2015
31
Congenital Toxoplasmosis: A Review. ( 26802827 )
2015
32
Assessment of the IgA immunosorbent agglutination assay for the diagnosis of congenital toxoplasmosis on a series of 145 toxoplasmic seroconversions. ( 25673306 )
2015
33
The rural-urban effect on spatial genetic structure of type II Toxoplasma gondii strains involved in human congenital toxoplasmosis, France, 2002-2009. ( 26305624 )
2015
34
Evaluation of colostrum as an alternative biological sample for the diagnosis of human congenital toxoplasmosis. ( 26573138 )
2015
35
Rate of congenital toxoplasmosis in large integrated health care setting, California, USA, 1998-2012. ( 25151860 )
2014
36
Congenital toxoplasmosis from a mother with type 2 diabetes mellitus: A case report. ( 25164320 )
2014
37
Assessment of laboratory methods used in the diagnosis of congenital toxoplasmosis after maternal treatment with spiramycin in pregnancy. ( 24961630 )
2014
38
It is not only the cat that did it: How to prevent and treat congenital toxoplasmosis. ( 24119928 )
2014
39
Biomarker analysis revealed distinct profiles of innate and adaptive immunity in infants with ocular lesions of congenital toxoplasmosis. ( 25328286 )
2014
40
Utility and limitations of T. gondii-specific IgM serum antibodies in the diagnosis of congenital toxoplasmosis in Porto Alegre. ( 24726454 )
2014
41
Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report. ( 24674575 )
2014
42
Multicentric comparative assessment of the Bio-EvolutionAr Toxoplasma gondii detection kit with eight laboratory-developed PCR assays for the molecular diagnosis of congenital toxoplasmosis. ( 25339393 )
2014
43
Congenital toxoplasmosis in a reference center of ParanA!, Southern Brazil. ( 24662141 )
2014
44
Congenital Toxoplasmosis. ( 25232475 )
2014
45
Polymerase chain reaction in cerebrospinal fluid for the diagnosis of congenital toxoplasmosis. ( 24445828 )
2014
46
Adverse socioeconomic conditions and oocyst-related factors are associated with congenital toxoplasmosis in a population-based study in Minas Gerais, Brazil. ( 24523920 )
2014
47
Evaluation of a new protocol for retrospective diagnosis of congenital toxoplasmosis by use of Guthrie cards. ( 24899036 )
2014
48
Presence and duration of anti-Toxoplasma gondii immunoglobulin M in infants with congenital toxoplasmosis. ( 24530469 )
2014
49
Incidence of congenital toxoplasmosis among infants born to HIV-coinfected mothers: case series and literature review. ( 25017666 )
2014
50
Incidence of death from congenital toxoplasmosis in 0-4-year-old children in Japan. ( 25252058 )
2014

Variations for Congenital Toxoplasmosis

Expression for Congenital Toxoplasmosis

Search GEO for disease gene expression data for Congenital Toxoplasmosis.

Pathways for Congenital Toxoplasmosis

Pathways related to Congenital Toxoplasmosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.42 CD40LG CD79A NLRP1 TLR9
2 11.17 CD40LG TLR9
3 11.03 CD40LG COL2A1
4 10.85 CD40LG TLR9
5 10.52 CD40LG CD79A

GO Terms for Congenital Toxoplasmosis

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

id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.5 CD40LG NLRP1 TLR9
2 B cell differentiation GO:0030183 9.37 CD40LG CD79A
3 B cell proliferation GO:0042100 9.26 CD40LG CD79A
4 positive regulation of interleukin-12 production GO:0032735 9.16 CD40LG TLR9
5 visual perception GO:0007601 9.13 ABCA4 COL2A1 NRL
6 positive regulation of interleukin-10 production GO:0032733 8.62 CD40LG TLR9

Sources for Congenital Toxoplasmosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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