Pettigrew Syndrome (PGS)

Alias:

Mrxs21

Mrx59

X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

Syndromic X-Linked Intellectual Disability 5

Mental Retardation, X-Linked, Syndromic 5

Mental Retardation, X-Linked Syndromic 5

Fried Syndrome

Mrxs5

Mrxsf

Pgs

Mental Retardation, X-Linked, with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures

X-Linked Metal Retardation with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures

X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome

Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures

Mental Retardation, X-Linked, Syndromic, Fried Type

Mental Retardation, X-Linked Syndromic, Fried Type

Syndromic X-Linked Mental Retardation Fried Type

Mental Retardation, X-Linked, Syndromic 21

Syndromic X-Linked Mental Retardation 21

Mental Retardation, X-Linked 59

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pettigrew Syndrome, also known as mrxs21, is related to dandy-walker syndrome and hydrocephalus, and has symptoms including muscle spasticity, seizures and gait ataxia. An important gene associated with Pettigrew Syndrome is AP1S2 (Adaptor Related Protein Complex 1 Subunit Sigma 2), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and HIV Life Cycle. Affiliated tissues include brain and eye, and related phenotypes are macrocephaly and gait disturbance

Related ID：

MALACARDS：PTT059

OMIM：304340

MESH：C535773