KEGG DISEASE: Childhood-onset neurodegeneration with progressive microcephaly

KEGG

DISEASE: Childhood-onset neurodegeneration with progressive microcephaly

Entry

H02808                      Disease

Name

Childhood-onset neurodegeneration with progressive microcephaly

Description

Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is a novel severe neurodegenerative disease with microcephaly, hypotonia, and severe intellectual disability. It has been reported that mutations in DTYMK cause this disease. DTYMK encodes deoxythymidine monophosphate kinase, a key enzyme in dTTP nucleotide metabolism.

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
    H02808  Childhood-onset neurodegeneration with progressive microcephaly

Gene

DTYMK [HSA:1841] [KO:K00943]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Lam CW, Yeung WL, Ling TK, Wong KC, Law CY

Title

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome.

Journal

Clin Chim Acta 496:93-99 (2019)
DOI:10.1016/j.cca.2019.06.028

Reference

Authors

Vanoevelen JM, Bierau J, Grashorn JC, Lambrichs E, Kamsteeg EJ, Bok LA, Wevers RA, van der Knaap MS, Bugiani M, Frisk JH, Colnaghi R, O'Driscoll M, Hellebrekers DMEI, Rodenburg R, Ferreira CR, Brunner HG, van den Wijngaard A, Abdel-Salam GMH, Wang L, Stumpel CTRM

Title

DTYMK is essential for genome integrity and neuronal survival.

Journal

Acta Neuropathol 143:245-262 (2022)
DOI:10.1007/s00401-021-02394-0

LinkDB

» Japanese version

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