eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital toxoplasmosis | ||||
| Disease ID | 190 |
|---|---|
| Disease | congenital toxoplasmosis |
| Definition | Prenatal protozoal infection with TOXOPLASMA gondii which is associated with injury to the developing fetal nervous system. The severity of this condition is related to the stage of pregnancy during which the infection occurs; first trimester infections are associated with a greater degree of neurologic dysfunction. Clinical features include HYDROCEPHALUS; MICROCEPHALY; deafness; cerebral calcifications; SEIZURES; and psychomotor retardation. Signs of a systemic infection may also be present at birth, including fever, rash, and hepatosplenomegaly. (From Adams et al., Principles of Neurology, 6th ed, p735) |
| Synonym | congen infect toxoplasma gondii congen toxoplasma gondii infect congen toxoplasma infect congen toxoplasmosis congenital infection, toxoplasma gondii congenital toxoplasma gondii infection congenital toxoplasma infection congenital toxoplasma infections congenital toxoplasmoses congenital toxoplasmosis (disorder) infection, congenital toxoplasma infections, congenital toxoplasma toxoplasma infect congen toxoplasma infection, congenital toxoplasma infections, congenital toxoplasmoses, congenital toxoplasmosis - congen. toxoplasmosis congen toxoplasmosis congenital toxoplasmosis, congenital toxoplasmosis, congenital [disease/finding] |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0040560 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0040558 | toxoplasmosis | 3 C0040561 | ocular toxoplasmosis | 3 C0000786 | spontaneous abortion | 2 C0008513 | chorioretinitis | 2 C0014544 | epilepsy | 1 C0002453 | amenorrhea | 1 C0008370 | cholestasis | 1 C0003467 | anxiety | 1 C0042164 | uveitis | 1 C0027765 | neurological disorders | 1 C0037769 | west syndrome | 1 C0042075 | urological disorders | 1 C0027765 | neurological disorder | 1 C0038379 | strabismus | 1 C0020255 | hydrocephalus | 1 C0014556 | temporal lobe epilepsy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 24 | ABCA4 | 1.805 | DISEASES 573 | BAG1 | 1.225 | DISEASES 959 | CD40LG | 6.355 | DISEASES 4267 | CD99 | 1.988 | DISEASES 1280 | COL2A1 | 1.742 | DISEASES 1812 | DRD1 | 1.286 | DISEASES 2317 | FLNB | 1.642 | DISEASES 51343 | FZR1 | 2.516 | DISEASES 257202 | GPX6 | 2.372 | DISEASES 3118 | HLA-DQA2 | 1.252 | DISEASES 3586 | IL10 | 1.807 | DISEASES 3654 | IRAK1 | 1.019 | DISEASES 51135 | IRAK4 | 1.566 | DISEASES 4615 | MYD88 | 1.65 | DISEASES 22861 | NLRP1 | 1.474 | DISEASES 4901 | NRL | 2.425 | DISEASES 4990 | SIX6 | 1.712 | DISEASES 7099 | TLR4 | 1.058 | DISEASES 54106 | TLR9 | 1.209 | DISEASES 9760 | TOX | 2.398 | DISEASES 7321 | UBE2D1 | 1.606 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 190 |
|---|---|
| Disease | congenital toxoplasmosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0000639 | Nystagmus HP:0001263 | Global developmental delay HP:0012733 | Macule HP:0000568 | Microphthalmia HP:0100543 | Cognitive impairment HP:0002119 | Ventriculomegaly HP:0000365 | Hearing impairment HP:0002716 | Lymphadenopathy HP:0001873 | Thrombocytopenia HP:0002014 | Diarrhea HP:0001531 | Failure to thrive in infancy HP:0001640 | Cardiomegaly HP:0001511 | Intrauterine growth retardation HP:0000952 | Jaundice HP:0001541 | Ascites HP:0001903 | Anemia HP:0001250 | Seizures HP:0000252 | Microcephaly HP:0002514 | Cerebral calcification HP:0001622 | Premature birth HP:0002240 | Hepatomegaly HP:0007703 | Abnormality of retinal pigmentation HP:0002910 | Elevated hepatic transaminases HP:0000505 | Visual impairment HP:0001252 | Muscular hypotonia HP:0000238 | Hydrocephalus |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0012424 | Chorioretinitis | 2 HP:0005268 | Spontaneous abortion | 2 HP:0000739 | Anxiety | 1 HP:0001249 | Mental retardation | 1 HP:0200056 | Macular scar | 1 HP:0000238 | Nonsyndromal hydrocephalus | 1 HP:0000486 | Squint eyes | 1 HP:0000554 | Uveitis | 1 HP:0000141 | Abnormal absence of menstruation | 1 HP:0004749 | Atrial flutter | 1 HP:0001396 | Cholestasis | 1 HP:0001250 | Seizures | 1 |
| Disease ID | 190 |
|---|---|
| Disease | congenital toxoplasmosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:28) C2029884 | hearing loss C2020541 | strabismus C1962983 | cataract C1397629 | fetal infection C1258104 | diffuse scleroderma C0796095 | c syndrome C0687720 | central diabetes insipidus C0431380 | cortical dysplasia C0376293 | stigmata C0270790 | tetraparesis C0268713 | congenital nephrotic syndrome C0221505 | cerebral lesions C0086543 | cataracts C0085620 | flaccid paralysis C0041408 | turner syndrome C0034013 | sexual precocity C0025309 | meningoencephalitis C0022658 | nephropathy C0022354 | cholestatic jaundice C0020635 | hypopituitarism C0020305 | hydrops fetalis C0019158 | hepatitis C0015411 | eye manifestations C0015397 | ocular disease C0014130 | endocrine disorders C0008513 | retinochoroiditis C0008513 | chorioretinitis C0006111 | brain disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1461567 | 23027530 | 51135 | IRAK4 | umls:C0040560 | BeFree | Additionally, we report the association of IRAK4 haplotype-tagging single nucleotide polymorphisms (tag-SNPs) with congenital toxoplasmosis in infected individuals (rs1461567 and rs4251513, P < 0.023 and P < 0.045, respectively). | 0.000271442 | 2012 | IRAK4 | 12 | 43770886 | G | A |
| rs312462 | 24686056 | 239 | ALOX12 | umls:C0040560 | BeFree | Here we report that the human ALOX12 gene has susceptibility alleles for human congenital toxoplasmosis (rs6502997 [P, <0.000309], rs312462 [P, <0.028499], rs6502998 [P, <0.029794], and rs434473 [P, <0.038516]). | 0.000271442 | 2014 | ALOX12;ALOX12-AS1 | 17 | 7010333 | G | A |
| rs4251513 | 23027530 | 51135 | IRAK4 | umls:C0040560 | BeFree | Additionally, we report the association of IRAK4 haplotype-tagging single nucleotide polymorphisms (tag-SNPs) with congenital toxoplasmosis in infected individuals (rs1461567 and rs4251513, P < 0.023 and P < 0.045, respectively). | 0.000271442 | 2012 | IRAK4 | 12 | 43780401 | G | C |
| rs434473 | 24686056 | 239 | ALOX12 | umls:C0040560 | BeFree | Here we report that the human ALOX12 gene has susceptibility alleles for human congenital toxoplasmosis (rs6502997 [P, <0.000309], rs312462 [P, <0.028499], rs6502998 [P, <0.029794], and rs434473 [P, <0.038516]). | 0.000271442 | 2014 | ALOX12;ALOX12-AS1 | 17 | 7001615 | A | G |
| rs6502997 | 24686056 | 239 | ALOX12 | umls:C0040560 | BeFree | Here we report that the human ALOX12 gene has susceptibility alleles for human congenital toxoplasmosis (rs6502997 [P, <0.000309], rs312462 [P, <0.028499], rs6502998 [P, <0.029794], and rs434473 [P, <0.038516]). | 0.000271442 | 2014 | NA | 17 | 6984439 | A | C |
| rs6502998 | 24686056 | 239 | ALOX12 | umls:C0040560 | BeFree | Here we report that the human ALOX12 gene has susceptibility alleles for human congenital toxoplasmosis (rs6502997 [P, <0.000309], rs312462 [P, <0.028499], rs6502998 [P, <0.029794], and rs434473 [P, <0.038516]). | 0.000271442 | 2014 | ALOX12-AS1 | 17 | 6986238 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001640 | Cardiomegaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000568 | Microphthalmia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 190 |
|---|---|
| Disease | congenital toxoplasmosis |
| Case | (Waiting for update.) |