MCID: PRT059
MIFTS: 39

Parietal Foramina 1 malady

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

Aliases & Classifications for Parietal Foramina 1

About this section

Aliases & Descriptions for Parietal Foramina 1:

Name: Parietal Foramina 1 49 11 22 67 24 65
Parietal Foramina 10 23 47 12 36 24
Enlarged Parietal Foramina 10 21 22 23 51
Symmetric Parietal Foramina 21 22 23 51
Foramina Parietalia Permagna 23 51 67
Hereditary Cranium Bifidum 10 23 51
Cranium Bifidum Occultum 22 23
Catlin Marks 23 51
Fpp 23 67
 
Fenestrae Parietales Symmetricae 51
Fenestrae Parietals Symmetricae 23
Msx2-Related Parietal Foramina 22
Parietal Foramina, Symmetric 22
Giant Parietal Foramina 23
Cranium Bifidum 23
Caitlin Marks 10
Pfm1 67
Pfm 23

Characteristics:

Orphanet epidemiological data:

51
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:

61
parietal foramina 1:
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 168500
Disease Ontology10 DOID:0060285
MeSH36 C566826
Orphanet51 60015
ICD10 via Orphanet28 Q75.8
UMLS65 C1868598, C1868599

Summaries for Parietal Foramina 1

About this section
Genetics Home Reference:23 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 aplasia cutis congenita of scalp, parietal foramina and symmetrical, oval parietal bone defects. An important gene associated with Parietal Foramina 1 is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, liver and breast, and related mouse phenotypes are limbs/digits/tail and craniofacial.

UniProtKB/Swiss-Prot:67 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:49 168500

GeneReviews summary for NBK1128

Related Diseases for Parietal Foramina 1

About this section

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



Diseases related to parietal foramina 1

Symptoms for Parietal Foramina 1

About this section

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 aplasia cutis congenita of scalp HP:0007385
2 parietal foramina HP:0002697
3 symmetrical, oval parietal bone defects HP:0002695
4 headache HP:0002315
5 encephalocele HP:0002084
6 seizures HP:0001250
7 cleft upper lip HP:0000204
8 cleft palate HP:0000175

Drugs & Therapeutics for Parietal Foramina 1

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Parietal Foramina 1


Cochrane evidence based reviews: parietal foramina

Genetic Tests for Parietal Foramina 1

About this section

Genetic tests related to Parietal Foramina 1:

id Genetic test Affiliating Genes
1 Enlarged Parietal Foramina22 MSX2
2 Parietal Foramina 122 MSX2

Anatomical Context for Parietal Foramina 1

About this section

MalaCards organs/tissues related to Parietal Foramina 1:

33
Bone, Liver, Breast

Animal Models for Parietal Foramina 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Parietal Foramina 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7ALX1, ALX3, ALX4, MSX2
2MP:00053828.4ALX1, ALX3, ALX4, MSX2
3MP:00053808.3ALX1, ALX3, ALX4, EXT2, MSX2
4MP:00053818.0ALX1, ALX3, ALX4, MNX1, MSX2
5MP:00053887.9ALX1, ALX3, ALX4, MNX1, SLC35C1
6MP:00053907.3ALX1, ALX3, ALX4, EXT2, MNX1, MSX2
7MP:00053867.1ALX1, ALX3, ALX4, MNX1, MSX2, PHF21A
8MP:00053787.0ALX1, ALX3, ALX4, MNX1, MSX2, SLC35C1
9MP:00107686.3ALX1, ALX3, ALX4, EXT2, MNX1, MSX2

Publications for Parietal Foramina 1

About this section

Variations for Parietal Foramina 1

About this section

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

67
id Symbol AA change Variation ID SNP ID
1MSX2p.Arg172HisVAR_010201
2MSX2p.Leu154ProVAR_010786

Expression for genes affiliated with Parietal Foramina 1

About this section
Search GEO for disease gene expression data for Parietal Foramina 1.

Pathways for genes affiliated with Parietal Foramina 1

About this section

GO Terms for genes affiliated with Parietal Foramina 1

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ossificationGO:00015039.9EXT2, MSX2
2pattern specification processGO:00073899.8ALX3, ALX4
3embryonic forelimb morphogenesisGO:00351159.4ALX3, ALX4, MSX2
4embryonic limb morphogenesisGO:00303269.3ALX1, MSX2
5embryonic skeletal system morphogenesisGO:00487049.2ALX1, ALX3, ALX4
6palate developmentGO:00600219.0ALX1, ALX4
7negative regulation of transcription from RNA polymerase II promoterGO:00001228.9ALX1, MSX2, PHF21A

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.2ALX1, PHF21A

Sources for Parietal Foramina 1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet