Pseudo-Torch Syndrome 1 (PTORCH1)

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Disease Ontology 12 DOID:0050656 OMIM® 57 251290 OMIM Phenotypic Series 57 PS251290 KEGG 36 H00840 MeSH 44 D009422 ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 71 C2931662 C3489725 Orphanet 58 ORPHA1229 MedGen 41 C3489725 C4552078 SNOMED-CT via HPO 68 128306009 128613002 16026008 16294009 166603001 166643006 17944005 18165001 193570009 221360009 224958001 23024003 236423003 246545002 246957002 247053007 258211005 271611007 271813007 27272007 302215000 31216003 313307000 36440009 397790002 415116008 42399005 432788009 4945003 50091001 563001 708670007 75183008 77981007 80515008 84757009 91175000 95515009 more UMLS 70 C2931662 C3489725

NINDS : ⁵³ Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. The mutations of four different genes are associated with AGS: Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, AGS2 is caused by a mutation in the RNASEH2B gene, AGS3 is caused by a mutation in the RNASEH2C gene, AGS4 is caused by a mutation in the RNASEH2A gene. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).

MalaCards based summary : Pseudo-Torch Syndrome 1, also known as pseudo-torch syndrome, is related to aicardi-goutieres syndrome 1 and congenital intrauterine infection-like syndrome, and has symptoms including muscle spasticity An important gene associated with Pseudo-Torch Syndrome 1 is OCLN (Occludin), and among its related pathways/superpathways are Cell adhesion molecules and Tight junction. Affiliated tissues include liver, brain and eye, and related phenotypes are cataract and renal insufficiency

Disease Ontology : ¹² A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has material basis in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2.

OMIM® : ⁵⁷ Pseudo-TORCH syndrome-1 is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010). 7,6: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. (251290) (Updated 20-May-2021)

KEGG : ³⁶ Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually seen when congenital infection occurs (TORCH syndrome), but no infectious agents are detected in BLC-PMG (pseudo-TORCH syndrome). Affected individuals show early-onset seizures and severe microcephaly.

UniProtKB/Swiss-Prot : ⁷² Pseudo-TORCH syndrome 1: An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay.

Wikipedia : ⁷³ Aicardi-Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi... more...

Clinical features from OMIM®:

251290 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Pseudo-Torch Syndrome 1

Search GEO for disease gene expression data for Pseudo-Torch Syndrome 1.