KEGG DISEASE: Proximal symphalangism

DISEASE: Proximal symphalangism

Entry

H00851                      Disease

Name

Proximal symphalangism

Description

Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB90  Joint formation defects
     H00851  Proximal symphalangism
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00851  Proximal symphalangism

Network

nt06507 TGFB signaling

Gene

(SYM1A) NOG [HSA:9241] [KO:K04658]
(SYM1B) GDF5 [HSA:8200] [KO:K04664]

Other DBs

ICD-11:

LB90.Y

MeSH:

C536223

OMIM:

185800 615298

Reference

PMID:18283415

Authors

Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WH, Luo Y, Zhang X

Title

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

Journal

J Hum Genet 53:368-74 (2008)
DOI:10.1007/s10038-008-0253-7

Reference

PMID:10080184

Authors

Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML

Title

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Journal

Nat Genet 21:302-4 (1999)
DOI:10.1038/6821

Reference

PMID:17994231

Authors

Plett SK, Berdon WE, Cowles RA, Oklu R, Campbell JB

Title

Cushing proximal symphalangism and the NOG and GDF5 genes.

Journal

Pediatr Radiol 38:209-15 (2008)
DOI:10.1007/s00247-007-0675-y

LinkDB

» Japanese version

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