KEGG   DISEASE: Takenouchi-Kosaki syndrome
Entry
H02667                      Disease                                
Name
Takenouchi-Kosaki syndrome
Description
Takenouchi-Kosaki syndrome (TKS) is a recently recognized autosomal dominant disorder caused by mutations in CDC42. TKS is characterized by intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections. CDC42 encodes a small GTPase of the RHO family modulating multiple signaling pathways controlling cell polarity and migration, endocytosis, and cell cycle progression.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02667  Takenouchi-Kosaki syndrome
Gene
CDC42 [HSA:998] [KO:K04393]
Other DBs
ICD-11: LD2F.Y
ICD-10: Q87.8
OMIM: 619841
Reference
PMID:26386261
  Authors
Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K
  Title
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.
  Journal
Am J Med Genet A 167A:2822-5 (2015)
DOI:10.1002/ajmg.a.37275
Reference
PMID:29394990
  Authors
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM
  Title
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
  Journal
Am J Hum Genet 102:309-320 (2018)
DOI:10.1016/j.ajhg.2017.12.015
Reference
PMID:30872706
  Authors
Uehara T, Suzuki H, Okamoto N, Kondoh T, Ahmad A, O'Connor BC, Yoshina S, Mitani S, Kosaki K, Takenouchi T
  Title
Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model.
  Journal
Sci Rep 9:4418 (2019)
DOI:10.1038/s41598-019-40988-7
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