KEGG DISEASE: Tatton-Brown-Rahman syndrome

KEGG

DISEASE: Tatton-Brown-Rahman syndrome

Entry

H02294                      Disease

Name

Tatton-Brown-Rahman syndrome

Description

Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H02294  Tatton-Brown-Rahman syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H02294  Tatton-Brown-Rahman syndrome

Pathway

Cysteine and methionine metabolism

Network

nt06535 Efferocytosis

Gene

DNMT3A [HSA:1788] [KO:K17398]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Kosaki R, Terashima H, Kubota M, Kosaki K

Title

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

Journal

Am J Med Genet A 173:250-253 (2017)
DOI:10.1002/ajmg.a.37995

Reference

Authors

Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N, van Montfort R, Rahman N

Title

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Journal

Nat Genet 46:385-8 (2014)
DOI:10.1038/ng.2917

LinkDB

» Japanese version

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