KEGG   DISEASE: Enlarged parietal foramina/cranium bifidum
Entry
H00475                      Disease                                
Name
Enlarged parietal foramina/cranium bifidum
Description
Enlarged parietal foramina/cranium bifidum is characterised by oval defects in the parietal bones. It results from incomplete ossification of the parietal bones during development and is caused by ALX4 or MSX2 gene mutations.
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
    LB70  Structural developmental anomalies of cranium
     H00475  Enlarged parietal foramina/cranium bifidum
Gene
(parietal foramina 1, parietal foramina with cleidocranial dysplasia) MSX2 [HSA:4488] [KO:K09341]
(parietal foramina 2) ALX4 [HSA:60529] [KO:K09451]
Other DBs
ICD-11: LB70.Y
ICD-10: Q75.8
MeSH: C566826
OMIM: 168500 609597 168550
Reference
PMID:20301307
  Authors
Wilkie AOM, Mavrogiannis LA
  Title
Enlarged Parietal Foramina/Cranium Bifidum
  Journal
GeneReviews (1993)
Reference
PMID:11106354
  Authors
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W
  Title
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
  Journal
J Med Genet 37:916-20 (2000)
DOI:10.1136/jmg.37.12.916
Reference
PMID:20306736
  Authors
Bello TO, Bajomo AA, Adeniyi TO
  Title
Foramina parietalia permagna in a Nigerian family.
  Journal
West Afr J Med 28:182-4 (2009)
DOI:10.4314/wajm.v28i3.48433

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Disease (3)   
   OMIM (3)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (10)   

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