MCID: PRT059
MIFTS: 43

Parietal Foramina 1 malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Parietal Foramina 1

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Aliases & Descriptions for Parietal Foramina 1:

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


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

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

Summaries for Parietal Foramina 1

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Genetics Home Reference:23 Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy.

MalaCards based summary: Parietal Foramina 1, also known as parietal foramina, is related to parietal foramina 2 and potocki-shaffer syndrome, and has symptoms including autosomal dominant inheritance, cleft palate and cleft upper lip. An important gene associated with Parietal Foramina 1 is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

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 msx2

Related Diseases for Parietal Foramina 1

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Diseases in the Parietal Foramina 1 family:

Parietal Foramina 2

Diseases related to Parietal Foramina 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1parietal foramina 231.4ALX4, MSX2
2potocki-shaffer syndrome30.8ALX4, EXT2, PHF21A
3frontonasal dysplasia 230.6ALX4, MSX2
4parietal foramina with cleidocranial dysplasia10.8
5frontonasal dysplasia 110.6
6encephalocele10.6
7headache10.5
8hemophilia a10.5
9hemophilia10.5
10hemophilia b10.5
11coagulation protein disease10.5
12factor viii deficiency10.5
13blood coagulation disease10.5
14blood protein disease10.5
15inherited blood coagulation disease10.5
16vascular hemostatic disease10.5
17x-linked disease10.5
18factor v leiden thrombophilia10.5
19acromelic frontonasal dysostosis10.5
20saethre-chotzen syndrome10.5
21cleidocranial dysplasia10.4
22craniosynostosis10.4
23dysostosis10.4
24greenberg skeletal dysplasia10.3
25severe hemophilia a10.3
26severe hemophilia b10.3
27frontonasal dysplasia 310.3
28hydrocephalus10.3
29meningoencephalocele10.3
30occipital encephalocele10.3
31factor x deficiency10.3
32nutritional deficiency disease10.3
33factor 2 deficiency10.2
34moderately severe hemophilia a10.2
35moderately severe hemophilia b10.2
36osteoporosis10.2
37rubinstein-taybi syndrome10.2
38diamond-blackfan anemia 110.2
39cdags syndrome10.2
40meningocele10.2
41imperforate anus10.2
42cerebritis10.2
43synostosis10.2
44aplasia cutis congenita10.2
45craniosynostosis 510.2ALX4, MSX2
46spastic diplegia10.1
47adjustment disorder10.1
48breast cancer10.1
49pleuropneumonia10.1
50diaphragmatic eventration10.1MNX1, MSX2

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 10)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cleft palate HP:0000175
3 cleft upper lip HP:0000204
4 seizures HP:0001250
5 heterogeneous HP:0001425
6 encephalocele HP:0002084
7 headache HP:0002315
8 symmetrical, oval parietal bone defects HP:0002695
9 parietal foramina HP:0002697
10 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 Enlarged Parietal Foramina22 MSX2
2 Parietal Foramina 122 24 MSX2

Anatomical Context for Parietal Foramina 1

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MalaCards organs/tissues related to Parietal Foramina 1:

33
Bone

Animal Models for Parietal Foramina 1 or affiliated genes

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MGI Mouse Phenotypes related to Parietal Foramina 1:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2ALX1, ALX3, ALX4, MSX1, MSX2
2MP:00053718.2ALX1, ALX3, ALX4, MSX1, MSX2
3MP:00053917.9ALX1, ALX3, ALX4, MSX1, MSX2
4MP:00053887.7ALX1, ALX3, ALX4, MNX1, MSX1
5MP:00053817.6ALX1, ALX3, ALX4, MNX1, MSX1, MSX2
6MP:00053807.6ALX1, ALX3, ALX4, EXT2, MSX1, MSX2
7MP:00053787.4ALX1, ALX3, ALX4, MNX1, MSX1, MSX2
8MP:00036317.3ALX1, ALX3, ALX4, MNX1, MSX1, MSX2
9MP:00053907.2ALX1, ALX3, ALX4, EXT2, MNX1, MSX1
10MP:00107686.6ALX1, ALX3, ALX4, EXT2, MNX1, MSX1
11MP:00053866.6ALX1, ALX3, ALX4, MNX1, 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:

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

Clinvar genetic disease variations for Parietal Foramina 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALX4NM_021926.3(ALX4): c.646C> G (p.Arg216Gly)single nucleotide variantPathogenicrs587777700GRCh38Chr 11, 44275479: 44275479
2ALX4NM_021926.3(ALX4)indelPathogenicrs587777702GRCh38Chr 11, 44265105: 44265114
3ALX4NM_021926.3(ALX4): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs104894191GRCh37Chr 11, 44331195: 44331195
4ALX4NM_021926.3(ALX4): c.736C> T (p.Gln246Ter)single nucleotide variantPathogenicrs104894192GRCh37Chr 11, 44296939: 44296939
5ALX4NM_021926.3(ALX4): c.653G> A (p.Arg218Gln)single nucleotide variantPathogenicrs104894193GRCh37Chr 11, 44297022: 44297022
6ALX4NM_021926.3(ALX4): c.504delT (p.Asp169Thrfs)deletionPathogenicrs587776614GRCh38Chr 11, 44275621: 44275621
7ALX4NM_021926.3(ALX4): c.815G> C (p.Arg272Pro)single nucleotide variantPathogenicrs104894196GRCh37Chr 11, 44289135: 44289135
8ALX4NM_021926.3(ALX4): c.620C> A (p.Ser207Ter)single nucleotide variantPathogenicrs104894197GRCh37Chr 11, 44297055: 44297055
9ALX4NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs)deletionPathogenicrs387906325GRCh37Chr 11, 44331219: 44331228

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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Cellular components related to Parietal Foramina 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.9ALX1, ALX3, ALX4, MNX1, MSX1, MSX2

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1BMP signaling pathway involved in heart developmentGO:006131210.4MSX1, MSX2
2activation of meiosisGO:009042710.4MSX1, MSX2
3positive regulation of mesenchymal cell apoptotic processGO:200105510.4MSX1, MSX2
4embryonic nail plate morphogenesisGO:003588010.4MSX1, MSX2
5epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.3MSX1, MSX2
6signal transduction involved in regulation of gene expressionGO:002301910.3MSX1, MSX2
7mammary gland epithelium developmentGO:006118010.2MSX1, MSX2
8stem cell differentiationGO:004886310.2MSX1, MSX2
9negative regulation of transcription regulatory region DNA bindingGO:200067810.2MSX1, MSX2
10odontogenesisGO:004247610.2MSX1, MSX2
11positive regulation of BMP signaling pathwayGO:003051310.0MSX1, MSX2
12bone morphogenesisGO:006034910.0MSX1, MSX2
13post-embryonic developmentGO:00097919.9ALX4, MNX1
14BMP signaling pathwayGO:00305099.9MSX1, MSX2
15ossificationGO:00015039.8EXT2, MSX2
16pattern specification processGO:00073899.8ALX3, ALX4
17embryonic digit morphogenesisGO:00427339.7ALX4, MSX1, MSX2
18muscle organ developmentGO:00075179.6ALX4, MSX1
19embryonic limb morphogenesisGO:00303269.4ALX1, MSX1, MSX2
20regulation of apoptotic processGO:00429819.3ALX3, ALX4, MSX2
21embryonic skeletal system morphogenesisGO:00487049.1ALX1, ALX3, ALX4
22palate developmentGO:00600219.1ALX1, ALX4, MSX1
23anterior/posterior pattern specificationGO:00099529.1ALX1, ALX4, MSX1, MSX2
24embryonic forelimb morphogenesisGO:00351159.0ALX3, ALX4, MSX1, MSX2
25embryonic hindlimb morphogenesisGO:00351168.9ALX3, ALX4, MSX1, MSX2
26transcription from RNA polymerase II promoterGO:00063668.6ALX1, ALX4, MSX1, MSX2
27negative regulation of transcription from RNA polymerase II promoterGO:00001228.5ALX1, MSX1, MSX2, PHF21A
28regulation of transcription, DNA-templatedGO:00063556.6ALX1, ALX3, ALX4, MNX1, MSX1, MSX2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transcription cofactor activityGO:000371210.2MSX2, PHF21A
2transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122710.1MSX1, MSX2
3transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000098210.1MSX1, MSX2
4protein heterodimerization activityGO:00469829.0ALX1, ALX4, EXT2
5transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012288.9ALX1, ALX4, MSX1
6RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009778.2ALX1, ALX4, MSX1, MSX2, PHF21A
7DNA bindingGO:00036777.0ALX1, ALX3, ALX4, MNX1, MSX1, MSX2
8sequence-specific DNA bindingGO:00435657.0ALX1, ALX3, ALX4, MNX1, MSX1, MSX2

Sources for Parietal Foramina 1

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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