MCID: PRT059
MIFTS: 38

Parietal Foramina 1 malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Parietal Foramina 1

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Aliases & Descriptions for Parietal Foramina 1:

Name: Parietal Foramina 1 50 23 68 25 12 66
Parietal Foramina 11 24 13 25 48 37
Enlarged Parietal Foramina 11 22 23 24 52
Symmetric Parietal Foramina 22 23 24 52
Foramina Parietalia Permagna 24 52 68
Hereditary Cranium Bifidum 11 24 52
Cranium Bifidum Occultum 23 24
Catlin Marks 24 52
Fpp 24 68
 
Fenestrae Parietales Symmetricae 52
Fenestrae Parietals Symmetricae 24
Msx2-Related Parietal Foramina 23
Parietal Foramina, Symmetric 23
Giant Parietal Foramina 24
Cranium Bifidum 24
Caitlin Marks 11
Pfm1 68
Pfm 24

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
parietal foramina 1:
Inheritance: autosomal dominant inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 168500
Disease Ontology11 DOID:0060285
MeSH37 C566826
Orphanet52 ORPHA60015
ICD10 via Orphanet29 Q75.8

Summaries for Parietal Foramina 1

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Genetics Home Reference:24 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 parietal foramina, is related to parietal foramina with cleidocranial dysplasia and parietal foramina 2, 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:68 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:50 168500

GeneReviews summary for NBK1128

Related Diseases for Parietal Foramina 1

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Graphical network of the top 20 diseases related to Parietal Foramina 1:



Diseases related to parietal foramina 1

Symptoms for Parietal Foramina 1

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Symptoms by clinical synopsis from OMIM:

168500

Clinical features from OMIM:

168500

HPO human phenotypes related to Parietal Foramina 1:

(show all 8)
id Description Frequency HPO Source Accession
1 cleft palate HP:0000175
2 cleft upper lip HP:0000204
3 seizures HP:0001250
4 encephalocele HP:0002084
5 headache HP:0002315
6 symmetrical, oval parietal bone defects HP:0002695
7 parietal foramina HP:0002697
8 aplasia cutis congenita of scalp HP:0007385

Drugs & Therapeutics for Parietal Foramina 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Parietal Foramina 1


Cochrane evidence based reviews: parietal foramina

Genetic Tests for Parietal Foramina 1

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Genetic tests related to Parietal Foramina 1:

id Genetic test Affiliating Genes
1 Parietal Foramina 125 23 MSX2
2 Parietal Foramina25
3 Enlarged Parietal Foramina23 MSX2

Anatomical Context for Parietal Foramina 1

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MalaCards organs/tissues related to Parietal Foramina 1:

34
Bone

Animal Models for Parietal Foramina 1 or affiliated genes

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MGI Mouse Phenotypes related to Parietal Foramina 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2ALX1, ALX3, ALX4, MSX1, MSX2
2MP:00053818.0ALX1, ALX3, ALX4, MSX1, MSX2
3MP:00053887.9ALX1, ALX3, ALX4, MSX1, SLC35C1
4MP:00053917.9ALX1, ALX3, ALX4, MSX1, MSX2
5MP:00053807.6ALX1, ALX3, ALX4, EXT2, MSX1, MSX2
6MP:00053717.5ALX1, ALX3, ALX4, MSX1, MSX2
7MP:00053907.3ALX1, ALX3, ALX4, EXT2, MSX1, MSX2
8MP:00053787.3ALX1, ALX3, ALX4, MSX1, MSX2, SLC35C1
9MP:00053866.8ALX1, ALX3, ALX4, MSX1, MSX2, PHF21A
10MP:00107686.6ALX1, ALX3, ALX4, EXT2, MSX1, MSX2

Publications for Parietal Foramina 1

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Variations for Parietal Foramina 1

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UniProtKB/Swiss-Prot genetic disease variations for Parietal Foramina 1:

68
id Symbol AA change Variation ID SNP ID
1MSX2p.Arg172HisVAR_010201rs104893896
2MSX2p.Leu154ProVAR_010786

Expression for genes affiliated with Parietal Foramina 1

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Search GEO for disease gene expression data for Parietal Foramina 1.

Pathways for genes affiliated with Parietal Foramina 1

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GO Terms for genes affiliated with Parietal Foramina 1

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Biological processes related to Parietal Foramina 1 according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1activation of meiosisGO:009042710.3MSX1, MSX2
2positive regulation of mesenchymal cell apoptotic processGO:200105510.3MSX1, MSX2
3embryonic nail plate morphogenesisGO:003588010.3MSX1, MSX2
4negative regulation of transcription regulatory region DNA bindingGO:200067810.2MSX1, MSX2
5mammary gland epithelium developmentGO:006118010.2MSX1, MSX2
6epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.2MSX1, MSX2
7BMP signaling pathway involved in heart developmentGO:006131210.2MSX1, MSX2
8stem cell differentiationGO:004886310.2MSX1, MSX2
9odontogenesisGO:004247610.1MSX1, MSX2
10positive regulation of BMP signaling pathwayGO:003051310.0MSX1, MSX2
11signal transduction involved in regulation of gene expressionGO:002301910.0MSX1, MSX2
12cartilage developmentGO:00512169.9MSX1, MSX2
13muscle organ developmentGO:00075179.8ALX4, MSX1
14BMP signaling pathwayGO:00305099.8MSX1, MSX2
15bone morphogenesisGO:00603499.8MSX1, MSX2
16embryonic digit morphogenesisGO:00427339.7ALX4, MSX1, MSX2
17ossificationGO:00015039.6EXT2, MSX2
18pattern specification processGO:00073899.5ALX3, ALX4
19regulation of apoptotic processGO:00429819.3ALX3, ALX4, MSX2
20palate developmentGO:00600219.0ALX1, ALX4, MSX1
21embryonic limb morphogenesisGO:00303269.0ALX1, MSX1, MSX2
22anterior/posterior pattern specificationGO:00099528.9ALX1, ALX4, MSX1, MSX2
23embryonic forelimb morphogenesisGO:00351158.8ALX3, ALX4, MSX1, MSX2
24embryonic hindlimb morphogenesisGO:00351168.8ALX3, ALX4, MSX1, MSX2
25embryonic skeletal system morphogenesisGO:00487048.7ALX1, ALX3, ALX4
26transcription from RNA polymerase II promoterGO:00063668.3ALX1, ALX4, MSX1, MSX2

Molecular functions related to Parietal Foramina 1 according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transcription cofactor activityGO:000371210.1MSX2, PHF21A
2transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000098210.0MSX1, MSX2
3transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122710.0MSX1, MSX2
4transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.2ALX1, ALX4, MSX1
5protein heterodimerization activityGO:00469828.7ALX1, ALX4, EXT2
6RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009778.4ALX1, ALX4, MSX1, MSX2, PHF21A
7sequence-specific DNA bindingGO:00435657.8ALX1, ALX3, ALX4, MSX1, MSX2

Sources for Parietal Foramina 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet