KEGG DISEASE: Childhood-onset neurodegeneration with brain atrophy

KEGG

DISEASE: Childhood-onset neurodegeneration with brain atrophy

Entry

H02476                      Disease

Name

Childhood-onset neurodegeneration with brain atrophy

Description

Childhood-onset neurodegeneration with brain atrophy (CONDBA) is an autosomal dominant disorder characterized by developmental regression and neurodegeneration in childhood. It has been reported that mutations in UBTF cause this disease. UBTF is a Pol I transcription factor and is instrumental in the generation of rRNA transcripts.

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
    H02476  Childhood-onset neurodegeneration with brain atrophy

Gene

UBTF [HSA:7343] [KO:K09273]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O

Title

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Journal

Am J Hum Genet 101:267-273 (2017)
DOI:10.1016/j.ajhg.2017.07.002

Reference

Authors

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, LeDoux MS

Title

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Journal

Hum Mol Genet 27:691-705 (2018)
DOI:10.1093/hmg/ddx435

LinkDB

» Japanese version

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