KEGG DISEASE: Pettigrew syndrome

KEGG

DISEASE: Pettigrew syndrome

Entry

H03038                      Disease

Name

Pettigrew syndrome

Supergrp

X-linked syndromic intellectual developmental disorder [DS:H00658]

Description

Pettigrew syndrome (PGS) is an X-linked intellectual disability characterized by intellectual disability, Dandy-Walker malformation, seizures, choreoathetosis, coarse facies, basal ganglia calcification, spasticity, and contractures. It has been reported that mutations in AP1S2 cause PGS. AP1S2 encodes the sigma-2 subunit of the heterotetrameric adaptor protein 1 (AP1) complex. AP1 is found in the cytosolic side of coated vesicles in the Golgi compartment. It mediates the recruitment of clathrin and the recognition of sorting signals of transmembrane receptors.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H03038  Pettigrew syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06550  Lysosome biogenesis
   H03038  Pettigrew syndrome

Network

nt06550 Lysosome biogenesis

Gene

AP1S2 [HSA:8905] [KO:K12394]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter DH, Dobyns WB, Villard L

Title

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Journal

Eur J Hum Genet 22:363-8 (2014)
DOI:10.1038/ejhg.2013.135

Reference

Authors

Noojarern S, Tim-Aroon T, Anurat K, Phetthong T, Khongkraparn A, Wattanasirichaigoon D

Title

A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.

Journal

Am J Med Genet A 194:e63639 (2024)
DOI:10.1002/ajmg.a.63639

LinkDB

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