KEGG DISEASE: Steel syndrome

KEGG

DISEASE: Steel syndrome

Entry

H02300                      Disease

Name

Steel syndrome

Description

Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been reported mutations in COL27A1 are responsible for Steel syndrome. COL27A1 encodes the pro-alpha chain of fibrillar collagen type XXVII. It has been suggested that COL27A1 may play an important role during cartilage mineralization.

Category

Congenital malformation

Brite

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
    H02300  Steel syndrome

Gene

COL27A1 [HSA:85301] [KO:K19721]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Flynn JM, Ramirez N, Betz R, Mulcahey MJ, Pino F, Herrera-Soto JA, Carlo S, Cornier AS

Title

Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.

Journal

J Pediatr Orthop 30:282-8 (2010)
DOI:10.1097/BPO.0b013e3181d3e464

Reference

Authors

Gariballa N, Ben-Mahmoud A, Komara M, Al-Shamsi AM, John A, Ali BR, Al-Gazali L

Title

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Journal

Am J Med Genet A 173:1257-1263 (2017)
DOI:10.1002/ajmg.a.38153

Reference

Authors

Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT

Title

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

Journal

Eur J Hum Genet 23:342-6 (2015)
DOI:10.1038/ejhg.2014.107

LinkDB

» Japanese version

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