Pseudo-torch syndrome 2

Preferred Label : Pseudo-torch syndrome 2;

Symbol : PTORCH2;

CISMeF acronym : PTORCH2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin-specific protease 18 gene (USP18, 607057.0001);

Laboratory abnormalities : Lactic acidosis (n some patients); Abnormal liver enzymes (in some patients);

Prefixed ID : #617397;

Details

Origin ID

617397;

UMLS CUI

C4479376;

Automatic exact mappings (from CISMeF team)
- USP18 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- USP18 deficiency [ORDO Disease]
- Ubiquitin specific peptidase 18 deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Ubiquitin-specific protease 18 [OMIM gene]
HPO term(s)
- Abnormal renal corticomedullary differentiation [HPO term]
- Acute respiratory distress syndrome [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral calcification [HPO term]
- Cerebral hemorrhage [HPO term]
- Dilation of lateral ventricles [HPO term]
- Elevated hepatic transaminase [HPO term]
- Fetal distress [HPO term]
- Fetal onset [HPO term]
- Generalized hypotonia [HPO term]
- Gray matter heterotopia [HPO term]
- Hepatomegaly [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Microcephaly [HPO term]
- Neonatal onset [HPO term]
- Patent ductus arteriosus [HPO term]
- Petechiae [HPO term]
- Pleural effusion [HPO term]
- Polymicrogyria [HPO term]
- Respiratory insufficiency [HPO term]
- Secundum atrial septal defect [HPO term]
- Seizure [HPO term]
- Thin ribs [HPO term]
- Thrombocytopenia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- USP18 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- USP18 deficiency [ORDO Disease]
- Ubiquitin specific peptidase 18 deficiency (disorder) [SNOMED CT concept]

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