KEGG DISEASE: Achondrogenesis type IA

KEGG

DISEASE: Achondrogenesis type IA

Entry

H00678                      Disease

Name

Achondrogenesis type IA;
Achondrogenesis, Houston-Harris type

Description

Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus.

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
    H00678  Achondrogenesis type IA

Gene

TRIP11 [HSA:9321] [KO:K23368]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Freeze HH

Title

Achondrogenesis type 1A--from mouse to human.

Journal

N Engl J Med 362:266-7 (2010)
DOI:10.1056/NEJMe0911455

Reference

Authors

Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafe L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR

Title

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Journal

N Engl J Med 362:206-16 (2010)
DOI:10.1056/NEJMoa0900158

Reference

Authors

Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pohls U, Stoss H, Rauch A, Thiel CT

Title

Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.

Journal

Pediatr Dev Pathol 10:328-34 (2007)
DOI:10.2350/06-07-0134.1

LinkDB

» Japanese version

DBGET integrated database retrieval system