KEGG DISEASE: Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities

KEGG

DISEASE: Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities

Entry

H02740                      Disease

Name

Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities

Description

Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is a rare early-onset neurodegeneration caused by gain-of-function mutations in CLCN6. CLCN6 encodes a H(+)/Cl(-) exchanger that is predominantly found in late endosomes of the nervous system.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Other disorders of the nervous system
   8E4Y  Other specified disorders of the nervous system
    H02740  Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities

Gene

(CONRIBA) CLCN6 [HSA:1185] [KO:K05015]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ

Title

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration.

Journal

Am J Hum Genet 107:1062-1077 (2020)
DOI:10.1016/j.ajhg.2020.11.004

LinkDB

» Japanese version

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