KEGG   DISEASE: Spondylometaphyseal dysplasia with cone-rod dystrophy
Entry
H01821                      Disease                                
Name
Spondylometaphyseal dysplasia with cone-rod dystrophy
  Supergrp
Spondylometaphyseal dysplasia [DS:H02185]
Description
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.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01821  Spondylometaphyseal dysplasia with cone-rod dystrophy
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01821  Spondylometaphyseal dysplasia with cone-rod dystrophy
Related
pathway
hsa00440  Phosphonate and phosphinate metabolism
hsa00564  Glycerophospholipid metabolism
Gene
PCYT1A [HSA:5130] [KO:K00968]
Other DBs
ICD-11: LD24.4
ICD-10: Q77.8
MeSH: C563825
OMIM: 608940
Reference
  Authors
Kitoh H, Kaneko H, Kondo M, Yamamoto T, Ishiguro N, Nishimura G
  Title
Spondylometaphyseal dysplasia with cone-rod dystrophy.
  Journal
Am J Med Genet A 155A:845-9 (2011)
DOI:10.1002/ajmg.a.33898
Reference
  Authors
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
  Title
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
  Journal
Am J Hum Genet 94:113-9 (2014)
DOI:10.1016/j.ajhg.2013.11.022
Reference
  Authors
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
  Title
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
  Journal
Am J Hum Genet 94:105-12 (2014)
DOI:10.1016/j.ajhg.2013.11.018
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