KEGG   DISEASE: Opsismodysplasia
Entry
H01828                      Disease                                

Name
Opsismodysplasia
Description
Opsismodysplasia (OPS) is a rare, autosomal-recessive skeletal dysplasia primarily characterized by growth plate defects and delayed bone maturation. Its clinical features are rhizomelic micromelia and facial dysmorphism, including prominent brow, large fontanels, depressed nasal bridge, and small anteverted nose with long philtrum, as well as short feet and hands with sausage-like fingers. Death secondary to respiratory failure during the first few years of life was reported in the cases originally described but the outcome is now known to be highly variable with multiple long-term survivors. Typical radiographical features include short long bones with markedly delayed epiphyseal mineralization, metaphyseal cupping, short metacarpals and phalanges, and severe platyspondyly. Mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with OPS. However, not all patients have INPPL1 variants suggesting that OPS exhibits genetic heterogeneity.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01828  Opsismodysplasia
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
    H01828  Opsismodysplasia
Gene
INPPL1 [HSA:3636] [KO:K15909]
Other DBs
ICD-11: LD24.5Y
ICD-10: Q78.8
MeSH: C537122
OMIM: 258480
Reference
  Authors
Fradet A, Fitzgerald J
  Title
INPPL1 gene mutations in opsismodysplasia.
  Journal
J Hum Genet 62:135-140 (2017)
DOI:10.1038/jhg.2016.119
Reference
  Authors
Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
  Title
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
  Journal
J Hum Genet 58:391-4 (2013)
DOI:10.1038/jhg.2013.25
Reference
  Authors
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ
  Title
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
  Journal
Am J Hum Genet 92:137-43 (2013)
DOI:10.1016/j.ajhg.2012.11.011
LinkDB

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