Congenital toxoplasmosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Toxoplasma embryopathy Toxoplasma embryofetopathy |
| Number of Symptoms | 26 |
| OrphanetNr: | 858 |
| OMIM Id: |
|
| ICD-10: |
P37.1 |
| UMLs: |
C0040560 |
| MeSH: |
D014125 |
| MedDRA: |
10010652 |
| Snomed: |
73893000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 33 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal Infancy Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Infectious disease with epilepsy
-Rare neurologic disease Infectious embryofetopathy -Rare developmental defect during embryogenesis -Rare infectious disease Rare parasitic disease -Rare infectious disease |
Symptom Information:
|
|
(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
|
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
|
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000505) | Visual impairment | Frequent [Orphanet] | 297 / 7739 | |||
|
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
|
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
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(HPO:0002514) | Cerebral calcification | Occasional [Orphanet] | 89 / 7739 | |||
|
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(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
|
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(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
|
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(HPO:0001541) | Ascites | Occasional [Orphanet] | 94 / 7739 | |||
|
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(HPO:0002910) | Elevated hepatic transaminases | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0001396) | Cholestasis | Occasional [Orphanet] | 136 / 7739 | |||
|
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
|
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(HPO:0001511) | Intrauterine growth retardation | Occasional [Orphanet] | 358 / 7739 | |||
|
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
|
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(HPO:0001640) | Cardiomegaly | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
|
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(HPO:0001873) | Thrombocytopenia | Occasional [Orphanet] | 224 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 129 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
|
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 | |||
|
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(MedDRA:10025421) | Macule | Occasional [Orphanet] | 55 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|