KEGG   DISEASE: Diets-Jongmans syndrome
Entry
H02521                      Disease                                
Name
Diets-Jongmans syndrome
Description
Diets-Jongmans syndrome (DIJOS) is an inherited neurodevelopmental disorder characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes a histone demethylase. KDM3B is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A0Y  Other specified neurodevelopmental disorders
    H02521  Diets-Jongmans syndrome
Pathway
hsa04714  Thermogenesis
Gene
KDM3B [HSA:51780] [KO:K15601]
Other DBs
ICD-11: 6A0Y
OMIM: 618846
Reference
PMID:30929739
  Authors
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ
  Title
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
  Journal
Am J Hum Genet 104:758-766 (2019)
DOI:10.1016/j.ajhg.2019.02.023
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