KEGG   DISEASE: Osteocraniostenosis
Entry
H02223                      Disease                                
Name
Osteocraniostenosis;
Gracile bone dysplasia
Description
Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. It has been reported that individuals with GCLEB had mutations in FAM111A.
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
    H02223  Osteocraniostenosis
Gene
FAM111A [HSA:63901] [KO:K24274]
Other DBs
ICD-11: LD24.D
MeSH: C537291
OMIM: 602361
Reference
PMID:19006220
  Authors
Nyholm JL, Lindor NM, Thomas KB, Brost BC
  Title
Slender bone dysplasia (gracile).
  Journal
Am J Med Genet A 146A:3234-6 (2008)
DOI:10.1002/ajmg.a.31979
Reference
PMID:23684011
  Authors
Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A
  Title
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
  Journal
Am J Hum Genet 92:990-5 (2013)
DOI:10.1016/j.ajhg.2013.04.020
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