Pseudo-Torch Syndrome 1 (PTORCH1)

Alias:

Pseudo-Torch Syndrome

Band-Like Calcification with Simplified Gyration and Polymicrogyria

Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome

Bilateral Band-Like Calcification with Polymicrogyria

Baraitser-Brett-Piesowicz Syndrome

Baraitser-Reardon Syndrome

Ptorch1

Blc-Pmg

Blcpmg

Congenital Intrauterine Infection-Like Syndrome

Baraitser Brett Piesowicz Syndrome

Ppseudo-Torch Syndrome 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pseudo-Torch Syndrome 1, also known as pseudo-torch syndrome, is related to aicardi-goutieres syndrome 1 and aicardi-goutieres syndrome 2, 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 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Blood-Brain Barrier and Immune Cell Transmigration: Overview. Affiliated tissues include brain and skin, and related phenotypes are seizure and spasticity

Related ID：

MALACARDS：PSD106

OMIM：251290

MESH：D009422