MCID: PRT059
MIFTS: 40

Parietal Foramina 1 malady

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

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 enlarged 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:47 168500

GeneReviews summary for msx2

Aliases & Classifications for Parietal Foramina 1

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 35MeSH, 28ICD10 via Orphanet
See all sources

Parietal Foramina 1, Aliases & Descriptions:

Name: Parietal Foramina 1 47 11 22 24 62
Enlarged Parietal Foramina 10 21 22 23 49 62
Parietal Foramina 47 10 23 45 49 62
Foramina Parietalia Permagna 23 49 62
Symmetric Parietal Foramina 21 49
Hereditary Cranium Bifidum 10 49
Catlin Marks 23 49
 
Fenestrae Parietales Symmetricae 49
Parietal Foramina, Symmetric 62
Cranium Bifidum, Hereditary 62
Cranium Bifidum 23
Caitlin Marks 10
Fpp 23
Pfm 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
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


External Ids:

OMIM47 168500
Disease Ontology10 DOID:0060285
MeSH35 C566826
Orphanet49 60015
ICD10 via Orphanet28 Q75.8

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 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:

37
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:

64
id Symbol AA change Variation ID SNP ID
1MSX2p.Arg172HisVAR_010201
2MSX2p.Leu154ProVAR_010786

Clinvar genetic disease variations for Parietal Foramina 1:

7
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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.1ALX4, MSX2

Biological processes related to Parietal Foramina 1 according to GeneCards/GeneDecks:

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/GeneDecks:

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

Products for genes affiliated with Parietal Foramina 1

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  • Antibodies
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  • Kits and Assays

Sources for Parietal Foramina 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet