PTORCH2
MCID: PSD107
MIFTS: 27
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Pseudo-Torch Syndrome 2 (PTORCH2)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Pseudo-Torch Syndrome 2:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in utero death in early infancy two unrelated families have been reported (last curated march 2017) HPO:32
pseudo-torch syndrome 2:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Bone diseases Liver diseases Blood diseases |
OMIM
:
57
Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).
For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290). (617397)
MalaCards based summary : Pseudo-Torch Syndrome 2, also known as ptorch2, is related to aicardi-goutieres syndrome 2 and aicardi-goutieres syndrome 3. An important gene associated with Pseudo-Torch Syndrome 2 is USP18 (Ubiquitin Specific Peptidase 18). Affiliated tissues include liver, brain and bone, and related phenotypes are seizures and respiratory insufficiency UniProtKB/Swiss-Prot : 75 Pseudo-TORCH syndrome 2: An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. |
Diseases in the Torch Syndrome family:
Diseases related to Pseudo-Torch Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Pseudo-Torch Syndrome 2:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617397Human phenotypes related to Pseudo-Torch Syndrome 2:32 (show all 20)
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MalaCards organs/tissues related to Pseudo-Torch Syndrome 2:41
Liver,
Brain,
Bone
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Articles related to Pseudo-Torch Syndrome 2:
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ClinVar genetic disease variations for Pseudo-Torch Syndrome 2:6
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Search
GEO
for disease gene expression data for Pseudo-Torch Syndrome 2.
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