KEGG   DISEASE: Short stature, developmental delay, congenital heart defect
Entry
H02439                      Disease                                

Name
Short stature, developmental delay, congenital heart defect
Description
Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme in the pentose phosphate pathway. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H02439  Short stature, developmental delay, congenital heart defect
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H02439  Short stature, developmental delay, congenital heart defect
Pathway
hsa00030 Pentose phosphate pathway   
Gene
TKT [HSA:7086] [KO:K00615]
Other DBs
ICD-11: 5C51.0
ICD-10: E74.8
OMIM: 617044
Reference
  Authors
Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK
  Title
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
  Journal
Am J Hum Genet 98:1235-1242 (2016)
DOI:10.1016/j.ajhg.2016.03.030
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