KEGG DISEASE: Temtamy preaxial brachydactyly syndrome

KEGG

DISEASE: Temtamy preaxial brachydactyly syndrome

Entry

H01497                      Disease

Name

Temtamy preaxial brachydactyly syndrome

Description

Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis of chondroitin sulfate and perhaps affecting bone morphogenetic protein (BMP) signaling. The loss-of-function mutations in the protein cause defects in multiple development processes. The major features include limb malformations, short stature, hearing loss, delayed motor and mental development, facial dysmorphism and dental anomalies.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H01497  Temtamy preaxial brachydactyly syndrome
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
  nt06029  Glycosaminoglycan biosynthesis
   H01497  Temtamy preaxial brachydactyly syndrome

Pathway

Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Network

nt06029 Glycosaminoglycan biosynthesis

Gene

CHSY1 [HSA:22856] [KO:K13499]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B

Title

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

Journal

Am J Hum Genet 87:757-67 (2010)
DOI:10.1016/j.ajhg.2010.10.003

Reference

Authors

Sher G, Naeem M

Title

A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.

Journal

Eur J Med Genet 57:21-4 (2014)
DOI:10.1016/j.ejmg.2013.11.001

LinkDB

» Japanese version

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