KEGG   DISEASE: Usmani-Riazuddin syndrome
Entry
H02692                      Disease                                
Name
Usmani-Riazuddin syndrome
Description
Usmani-Riazuddin syndrome is a neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. It has been reported that mutations in AP1G1 cause this disease. AP1G1 encodes gamma-1 subunit of adaptor-related protein complex 1. Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A0Y  Other specified neurodevelopmental disorders
    H02692  Usmani-Riazuddin syndrome
Gene
AP1G1 [HSA:164] [KO:K12391]
Other DBs
ICD-11: 6A0Y
ICD-10: F88
OMIM: 619467 619548
Reference
PMID:34102099
  Authors
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S
  Title
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
  Journal
Am J Hum Genet 108:1330-1341 (2021)
DOI:10.1016/j.ajhg.2021.05.007
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