KEGG   DISEASE: Cousin syndrome
Entry
H00873                      Disease                                
Name
Cousin syndrome;
Pelviscapular dysplasia
Description
Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB9Y  Other specified structural developmental anomalies of the skeleton
     H00873  Cousin syndrome
Gene
TBX15 [HSA:6913] [KO:K10182]
Other DBs
ICD-11: LB9Y
ICD-10: Q87.5
MeSH: C535550
OMIM: 260660
Reference
PMID:19068278
  Authors
Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A
  Title
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.
  Journal
Am J Hum Genet 83:649-55 (2008)
DOI:10.1016/j.ajhg.2008.10.011
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