PFM1
MCID: PRT059
MIFTS: 37

Parietal Foramina 1 (PFM1) 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 52 24 70 27 12 68
Enlarged Parietal Foramina 11 23 24 25 54 70
Parietal Foramina 11 25 27 50 39 13
Symmetric Parietal Foramina 23 24 25 54
Foramina Parietalia Permagna 25 54 70
Hereditary Cranium Bifidum 11 25 54
Cranium Bifidum Occultum 24 25 70
Catlin Marks 25 54 70
Parietal Foramina, Symmetric 24 70
Fpp 25 70
 
Pfm 25 70
Fenestrae Parietales Symmetricae 54
Fenestrae Parietals Symmetricae 25
Msx2-Related Parietal Foramina 24
Cranium Bifidum, Hereditary 70
Giant Parietal Foramina 25
Cranium Bifidum 25
Caitlin Marks 11
Pfm1 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
parietal foramina 1:
Inheritance: autosomal dominant inheritance, heterogeneous

GeneReviews:

23
Penetrance: penetrance is approximately 90% overall for either msx2 or alx4 mutations. several individuals with a documented disease-causing mutation showed no radiographic evidence of enlarged parietal foramina [wilkie et al 2000, mavrogiannis et al 2001, mavrogiannis et al 2006]. ...


Classifications:



External Ids:

OMIM52 168500
Disease Ontology11 DOID:0060285
Orphanet54 ORPHA60015
ICD10 via Orphanet31 Q75.8

Summaries for Parietal Foramina 1

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Genetics Home Reference:25 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 enlarged parietal foramina, is related to parietal foramina with cleidocranial dysplasia and parietal foramina 2, and has symptoms including headache, headache 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:70 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:52 168500

GeneReviews 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 & Phenotypes for Parietal Foramina 1

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Symptoms by clinical synopsis from OMIM:

168500

Clinical features from OMIM:

168500

Human phenotypes related to Parietal Foramina 1:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 HP:0000175
2 cleft upper lip64 HP:0000204
3 seizures64 HP:0001250
4 encephalocele64 HP:0002084
5 headache64 HP:0002315
6 symmetrical, oval parietal bone defects64 HP:0002695
7 parietal foramina64 HP:0002697
8 aplasia cutis congenita of scalp64 HP:0007385

UMLS symptoms related to Parietal Foramina 1:


headache, seizures

MGI Mouse Phenotypes related to Parietal Foramina 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6ALX1, ALX3, ALX4, MSX1, MSX2
2MP:00053818.6ALX1, ALX3, ALX4, MSX1, MSX2
3MP:00053718.6ALX1, ALX3, ALX4, MSX1, MSX2
4MP:00053888.5ALX1, ALX3, ALX4, MSX1, SLC35C1
5MP:00053788.2ALX1, ALX3, ALX4, MSX1, MSX2, SLC35C1
6MP:00053808.1ALX1, ALX3, ALX4, EXT2, MSX1, MSX2
7MP:00053908.0ALX1, ALX3, ALX4, EXT2, MSX1, MSX2
8MP:00053917.8ALX1, ALX3, ALX4, MSX1, MSX2
9MP:00053867.8ALX1, ALX3, ALX4, MSX1, MSX2, PHF21A
10MP:00107687.2ALX1, ALX3, ALX4, EXT2, MSX1, MSX2

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 127 24 MSX2
2 Parietal Foramina27
3 Enlarged Parietal Foramina24 MSX2

Anatomical Context for Parietal Foramina 1

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MalaCards organs/tissues related to Parietal Foramina 1:

36
Bone

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:

70
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 28)
idNameGO IDScoreTop Affiliating Genes
1activation of meiosisGO:009042710.4MSX1, MSX2
2BMP signaling pathwayGO:003050910.4MSX1, MSX2
3BMP signaling pathway involved in heart developmentGO:006131210.4MSX1, MSX2
4bone morphogenesisGO:006034910.4MSX1, MSX2
5cartilage developmentGO:005121610.4MSX1, MSX2
6embryonic nail plate morphogenesisGO:003588010.4MSX1, MSX2
7epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.4MSX1, MSX2
8mammary gland epithelium developmentGO:006118010.4MSX1, MSX2
9ossificationGO:000150310.4EXT2, MSX2
10negative regulation of transcription regulatory region DNA bindingGO:200067810.4MSX1, MSX2
11odontogenesisGO:004247610.4MSX1, MSX2
12positive regulation of BMP signaling pathwayGO:003051310.4MSX1, MSX2
13positive regulation of mesenchymal cell apoptotic processGO:200105510.4MSX1, MSX2
14muscle organ developmentGO:000751710.4ALX4, MSX1
15signal transduction involved in regulation of gene expressionGO:002301910.4MSX1, MSX2
16stem cell differentiationGO:004886310.4MSX1, MSX2
17pattern specification processGO:000738910.1ALX3, ALX4
18embryonic digit morphogenesisGO:004273310.0ALX4, MSX1, MSX2
19embryonic limb morphogenesisGO:00303269.8ALX1, MSX1, MSX2
20palate developmentGO:00600219.8ALX1, ALX4, MSX1
21regulation of apoptotic processGO:00429819.7ALX3, ALX4, MSX2
22embryonic skeletal system morphogenesisGO:00487049.5ALX1, ALX3, ALX4
23anterior/posterior pattern specificationGO:00099529.4ALX1, ALX4, MSX1, MSX2
24embryonic forelimb morphogenesisGO:00351159.2ALX3, ALX4, MSX1, MSX2
25embryonic hindlimb morphogenesisGO:00351169.2ALX3, ALX4, MSX1, MSX2
26multicellular organism developmentGO:00072758.6ALX1, ALX3, ALX4, MSX1, MSX2
27regulation of transcription, DNA-templatedGO:00063558.1ALX1, ALX3, ALX4, MSX1, MSX2, PHF21A
28transcription, DNA-templatedGO:00063517.4ALX1, ALX3, ALX4, MSX1, MSX2, PHF21A

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transcription cofactor activityGO:000371210.3MSX2, PHF21A
2protein heterodimerization activityGO:00469829.7ALX1, ALX4, EXT2
3transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012279.6MSX1, MSX2
4transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.4ALX1, ALX4, MSX1
5DNA bindingGO:00036778.9ALX1, ALX4, MSX1, MSX2, PHF21A
6RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009778.9ALX1, ALX4, MSX1, MSX2, PHF21A
7sequence-specific DNA bindingGO:00435658.4ALX1, ALX3, ALX4, MSX1, MSX2

Sources for Parietal Foramina 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet