Details of Disease

General Information of Disease (ID: DISS1N5X)

Disease Name Parietal foramina
Synonyms parietal foramina; fenestrae parietales symmetricae; Caitlin marks; foramina parietalia permagna; symmetric parietal foramina; catlin marks; hereditary cranium bifidum; enlarged parietal foramina
Definition
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DIS5Z8U6: Skeletal dysplasia
DIS5J95E: Neural tube defect
DISS1N5X: Parietal foramina
Disease Identifiers
MONDO ID
MONDO_0018953
UMLS CUI
C0222706
MedGen ID
526951
HPO ID
HP:0002697
Orphanet ID
60015
SNOMED CT ID
11240000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALX4 OTNS9A29 Supportive Autosomal dominant [1]
MSX2 OT1WDKE1 Definitive Autosomal dominant [2]
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References

1 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet. 2006 Feb;14(2):151-8. doi: 10.1038/sj.ejhg.5201526.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.