KEGG DISEASE: Larsen syndrome

KEGG

DISEASE: Larsen syndrome

Entry

H02048                      Disease

Name

Larsen syndrome

Subgroup

Larsen-like syndrome [DS:H01498]

Description

Larsen syndrome (LRS) is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.

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
    H02048  Larsen syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H02048  Larsen syndrome

Pathway

MAPK signaling pathway

Focal adhesion

Integrin signaling

Network

nt06548 Integrin signaling

Gene

FLNB [HSA:2317] [KO:K27392]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP

Title

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Journal

J Med Genet 44:89-98 (2007)
DOI:10.1136/jmg.2006.043687

Reference

Authors

Becker R, Wegner RD, Kunze J, Runkel S, Vogel M, Entezami M

Title

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.

Journal

Clin Genet 57:148-50 (2000)
DOI:10.1034/j.1399-0004.2000.570210.x

LinkDB

» Japanese version

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