Pseudo-torch syndrome 1

Preferred Label : Pseudo-torch syndrome 1;

Symbol : PTORCH1;

CISMeF acronym : BLCPMG; PTORCH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pseudo-torch syndrome; Band-like calcification with simplified gyration and polymicrogyria; BLCPMG;

Description : Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. The disorder has sometimes been referred to as pseudo-TORCH syndrome. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010). Crow et al. (2000, 2003) called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; 225750), and even suggested that some cases may represent the same disorder. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the occludin gene (OCLN, 602876.0001);

Laboratory abnormalities : Abnormal liver function tests (less common); No evidence of intrauterine infection in mother or newborn;

Prefixed ID : #251290;

Details

Origin ID

251290;

UMLS CUI

C4552078;

Automatic exact mappings (from CISMeF team)
- Aicardi-Goutieres syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Baraitser Brett Piesowicz syndrome [MeSH concept]
- Congenital intrauterine infection-like syndrome [ORDO Disease]
- Congenital intrauterine infection-like syndrome [ICD-11 More detail]
- Congenital intrauterine infection-like syndrome (disorder) [SNOMED CT concept]
- Pseudo-TORCH syndrome [MeSH concept]
- baraitser brett piesowicz syndrome [MeSH Supplementary Concept]
- pseudo-TORCH syndrome 1 [DO Concept]
DO Cross reference
- pseudo-TORCH syndrome 1 [DO Concept]
Genes related to phenotype
- Occludin [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral calcification [HPO term]
- Cleft lip [HPO term]
- Corneal opacity [HPO term]
- Decreased liver function [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Increased CSF protein [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Jaundice [HPO term]
- Lissencephaly [HPO term]
- Liver dysfunction [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Opacification of the corneal stroma [HPO term]
- Pachygyria [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Petechiae [HPO term]
- Polymicrogyria [HPO term]
- Renal insufficiency [HPO term]
- Seizure [HPO term]
- Sloping forehead [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Umbilical hernia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Congenital intrauterine infection-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudo-TORCH syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Aicardi-Goutieres syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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