KEGG   DISEASE: 錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成
エントリ  
H01821                                                             
名称    
錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成
  上位グループ
脊椎骨幹端異形成 [DS:H02185]
概要    
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare presumed autosomal-recessive disorder with postnatal growth deficiency leading to profound short stature; rhizomelia with bowing of the lower extremities; platyspondyly with anterior vertebral protrusions; progressive metaphyseal irregularity and cupping with shortened tubular bones; and early-onset, progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. Spondylometaphyseal dysplasias (SMDs) are a heterogeneous group of disorders radiologically characterized by platyspondyly and metaphyseal dysplasia. Extra-skeletal abnormalities associated with SMDs are uncommon. In 2004, a unique form of SMD associated with cone-rod dystrophy (CRD) was described and defined as SMD-CRD. Loss-of-function mutations in PCYT1A have been reported as the cause of SMD-CRD.
カテゴリ  
先天奇形
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  筋骨格系の先天奇形
   H01821  錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD24  主な特徴として骨格の異常を伴う症候群
    H01821  錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成
関連パスウェイ
hsa00440  Phosphonate and phosphinate metabolism
hsa00564  Glycerophospholipid metabolism
病因遺伝子 
PCYT1A [HSA:5130] [KO:K00968]
リンク   
ICD-11: LD24.4
ICD-10: Q77.8
MeSH: C563825
OMIM: 608940
文献    
  著者
Kitoh H, Kaneko H, Kondo M, Yamamoto T, Ishiguro N, Nishimura G
  タイトル
Spondylometaphyseal dysplasia with cone-rod dystrophy.
  雑誌
Am J Med Genet A 155A:845-9 (2011)
DOI:10.1002/ajmg.a.33898
文献    
  著者
Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR
  タイトル
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
  雑誌
Am J Hum Genet 94:113-9 (2014)
DOI:10.1016/j.ajhg.2013.11.022
文献    
  著者
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM
  タイトル
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
  雑誌
Am J Hum Genet 94:105-12 (2014)
DOI:10.1016/j.ajhg.2013.11.018
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