KEGG DISEASE: TIMES syndrome

KEGG

DISEASE: TIMES syndrome

Entry

H02850                      Disease

Name

TIMES syndrome

Description

TIMES syndrome is a novel multisystem disorder characterized by telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. It has been reported that mutations in LRRC8C cause this disease. LRRC8C encodes a subunit of the volume-regulated anion channels (VRACs), key players in regulatory volume decrease of vertebrate cells by mediating the extrusion of chloride and organic osmolytes.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02850  TIMES syndrome

Gene

LRRC8C [HSA:84230] [KO:K22038]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Quinodoz M, Rutz S, Peter V, Garavelli L, Innes AM, Lehmann EF, Kellenberger S, Peng Z, Barone A, Campos-Xavier B, Unger S, Rivolta C, Dutzler R, Superti-Furga A

Title

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Journal

EMBO J 44:413-436 (2025)
DOI:10.1038/s44318-024-00322-y

Reference

Authors

Konig B, Stauber T

Title

Biophysics and Structure-Function Relationships of LRRC8-Formed Volume-Regulated Anion Channels.

Journal

Biophys J 116:1185-1193 (2019)
DOI:10.1016/j.bpj.2019.02.014

LinkDB

» Japanese version

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