Pseudo-torch syndrome 3

Preferred Label : Pseudo-torch syndrome 3;

Symbol : PTORCH3;

CISMeF acronym : PTORCH3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 2 gene (STAT2, 600556.0003);

Laboratory abnormalities : Proteinuria; Increased LDH; Elevated liver enzymes; Increased ferritin;

Prefixed ID : #618886;

Details

Origin ID

618886;

UMLS CUI

C5394391;

Genes related to phenotype
- Signal transducer and activator of transcription 2 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Acute kidney injury [HPO term]
- Anemia [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral calcification [HPO term]
- Cerebral hemorrhage [HPO term]
- Congenital thrombocytopenia [HPO term]
- Death in infancy [HPO term]
- Elevated circulating D-dimer concentration [HPO term]
- Global developmental delay [HPO term]
- Hypertension [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Leukocytosis [HPO term]
- Lymphadenitis [HPO term]
- Premature birth [HPO term]
- Proteinuria [HPO term]
- Recurrent fever [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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