KEGG DISEASE: Auroneurodental syndrome

KEGG

DISEASE: Auroneurodental syndrome

Entry

H02813                      Disease

Name

Auroneurodental syndrome

Description

Auroneurodental syndrome (ANDS) is a novel genetic disorder characterized by progressive high-frequency sensorineural hearing loss, craniofacial dysmorphisms, developmental delay and mild proximal and axial muscle weakness. It has been reported mutations in NAA80 cause this syndrome. NAA80 is the N-terminal acetyltransferase expressed in the animal kingdom. NAA80 was recently found to specifically N-terminally acetylate actin.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02813  Auroneurodental syndrome

Gene

NAA80 [HSA:24142] [KO:K27921]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Muffels IJJ, Wiame E, Fuchs SA, Massink MPG, Rehmann H, Musch JLI, Van Haaften G, Vertommen D, van Schaftingen E, van Hasselt PM

Title

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

Journal

Brain Commun 3:fcab256 (2021)
DOI:10.1093/braincomms/fcab256

Reference

Authors

Myklebust LM, Baumann M, Stove SI, Foyn H, Arnesen T, Haug BE

Title

Optimized bisubstrate inhibitors for the actin N-terminal acetyltransferase NAA80.

Journal

Front Chem 11:1202501 (2023)
DOI:10.3389/fchem.2023.1202501

LinkDB

» Japanese version

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