Parietal Foramina 1 malady
Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Parietal Foramina 1:
Orphanet epidemiological data:53
enlarged parietal foramina:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy
Penetrance: penetrance is approximately 90% overall for either msx2 or alx4 mutations. several individuals with a documented disease-causing mutation showed no radiographic evidence of enlarged parietal foramina [wilkie et al 2000, mavrogiannis et al 2001, mavrogiannis et al 2006]. ...
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases
Genetics Home Reference:25 Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life.
MalaCards based summary: Parietal Foramina 1, also known as enlarged parietal foramina, is related to frontonasal dysplasia 2 and parietal foramina with cleidocranial dysplasia, and has symptoms including cleft palate, cleft upper lip and seizures. An important gene associated with Parietal Foramina 1 is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, and related mouse phenotypes are craniofacial and digestive/alimentary.
UniProtKB/Swiss-Prot:69 Parietal foramina 1: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month.
Description from OMIM:51 168500
GeneReviews for NBK1128
Human phenotypes related to Parietal Foramina 1:63 (show all 8)
MalaCards organs/tissues related to Parietal Foramina 1:35
MGI Mouse Phenotypes related to Parietal Foramina 1:40
Search GEO for disease gene expression data for Parietal Foramina 1.
Biological processes related to Parietal Foramina 1 according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Parietal Foramina 1 according to GeneCards Suite gene sharing:(show all 7)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet