MCID: PRT059
MIFTS: 35

Parietal Foramina 1 malady

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

Aliases & Classifications for Parietal Foramina 1

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Parietal Foramina 1:

Name: Parietal Foramina 1 46 9 20 22 61
Parietal Foramina 46 8 21 44 48 61
Enlarged Parietal Foramina 8 19 20 21 48
Foramina Parietalia Permagna 21 48
Symmetric Parietal Foramina 19 48
Hereditary Cranium Bifidum 8 48
Catlin Marks 21 48
 
Fenestrae Parietales Symmetricae 48
Cranium Bifidum 21
Caitlin Marks 8
Cranioschisis 61
Fpp 21
Pfm 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
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:

OMIM46 168500
Disease Ontology8 DOID:0060285
MeSH33 C566826
Orphanet48 60015
ICD10 via Orphanet26 Q75.8

Summaries for Parietal Foramina 1

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Genetics Home Reference:21 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 craniosynostosis and synostosis, 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 skeleton and limbs/digits/tail.

Description from OMIM:46 168500

GeneReviews summary for msx2

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 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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Drug clinical trials:

Search ClinicalTrials for Parietal Foramina 1

Search NIH Clinical Center for Parietal Foramina 1

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 Foramina20 MSX2
2 Parietal Foramina 120 22 MSX2

Anatomical Context for Parietal Foramina 1

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MalaCards organs/tissues related to Parietal Foramina 1:

31
Bone

Animal Models for Parietal Foramina 1 or affiliated genes

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MGI Mouse Phenotypes related to Parietal Foramina 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.7MSX2
2MP:00053719.3ALX4, MSX2
3MP:00053829.3ALX4, MSX2
4MP:00053819.3ALX4, MSX2
5MP:00053919.2ALX4, MSX2
6MP:00053699.2MSX2, ALX4
7MP:00028739.1ALX4, MSX2
8MP:00107719.0ALX4, MSX2
9MP:00053808.8ALX4, 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:

63
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.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs104894191GRCh37Chr 11, 44331195: 44331195
2ALX4NM_021926.3(ALX4): c.736C> T (p.Gln246Ter)single nucleotide variantPathogenicrs104894192GRCh37Chr 11, 44296939: 44296939
3ALX4NM_021926.3(ALX4): c.653G> A (p.Arg218Gln)single nucleotide variantPathogenicrs104894193GRCh37Chr 11, 44297022: 44297022
4ALX4ALX4, 1-BP DEL, 504TdeletionPathogenic
5ALX4NM_021926.3(ALX4): c.815G> C (p.Arg272Pro)single nucleotide variantPathogenicrs104894196GRCh37Chr 11, 44289135: 44289135
6ALX4NM_021926.3(ALX4): c.620C> A (p.Ser207Ter)single nucleotide variantPathogenicrs104894197GRCh37Chr 11, 44297055: 44297055
7ALX4NM_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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Compounds 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
1transcription factor complexGO:00056679.1ALX4, MSX2

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

idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:00099529.1ALX4, MSX2
2embryonic hindlimb morphogenesisGO:00351169.0ALX4, MSX2
3embryonic forelimb morphogenesisGO:00351158.8ALX4, MSX2

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.1ALX4, MSX2

Sources for Parietal Foramina 1

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet