KEGG DISEASE: Paul-Chao neurodevelopmental syndrome

DISEASE: Paul-Chao neurodevelopmental syndrome

Entry

H02911                      Disease

Name

Paul-Chao neurodevelopmental syndrome

Description

Paul-Chao neurodevelopmental syndrome (NEDPACH) is a rare syndrome characterized by developmental delay, intellectual disability, hypotonia, autism, and epilepsy. It has been reported that mutations in PPFIA3 cause this syndrome. PPFIA3 encodes the protein-tyrosine phosphatase, which is a member of the liprin family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly.

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
   H02911  Paul-Chao neurodevelopmental syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H02911  Paul-Chao neurodevelopmental syndrome

Pathway

hsa04517 IGSF CAM signaling

Network

nt06546 IgSF CAM signaling

Gene

PPFIA3 [HSA:8541] [KO:K26226]

Other DBs

ICD-11:

LD90.Y

OMIM:

621122

Reference

PMID:38181735

Authors

Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomme-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT

Title

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal

Am J Hum Genet 111:96-118 (2024)
DOI:10.1016/j.ajhg.2023.12.004

Reference

PMID:37034625

Authors

Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT

Title

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.

Journal

medRxiv 2023.03.27.23287689 (2023)
DOI:10.1101/2023.03.27.23287689

LinkDB

» Japanese version

DBGET integrated database retrieval system