KEGG DISEASE: Neuromuscular oculoauditory syndrome

DISEASE: Neuromuscular oculoauditory syndrome

Entry

H02745                      Disease

Name

Neuromuscular oculoauditory syndrome

Description

Neuromuscular oculoauditory syndrome (NMOAS) is a rare disease caused by mutations in DHX16. Patients share features of central nervous system anomalies and seizures. NMOAS can have varied presentations and can be suspected in a young infant with weakness, seizures, blindness and deafness. DHX16 is a member of the spliceosome complex B and is required for pre-mRNA splicing.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02745  Neuromuscular oculoauditory syndrome
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
  nt06547  Spliceosome
   H02745  Neuromuscular oculoauditory syndrome

Network

nt06547 Spliceosome

Gene

DHX16 [HSA:8449] [KO:K12813]

Other DBs

ICD-11:

LD20.Y

OMIM:

618733

Reference

PMID:31256877

Authors

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR

Title

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Journal

Am J Hum Genet 105:302-316 (2019)
DOI:10.1016/j.ajhg.2019.06.001

Reference

PMID:36211162

Authors

Archana A, Selvan T, Kumar VR, Abinaya K, Kasturi N

Title

A Rare Case of Neuromuscular Oculoauditory Syndrome.

Journal

Ann Indian Acad Neurol 25:780-781 (2022)
DOI:10.4103/aian.aian_67_22

LinkDB

» Japanese version

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