FPP
MCID: ENL009
MIFTS: 32

Enlarged Parietal Foramina (FPP) malady

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

Summaries for Enlarged Parietal Foramina

About this section
Sources:
22Genetics Home Reference, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 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: Enlarged Parietal Foramina, also known as parietal foramina, is related to craniosynostosis and parietal foramina 1. An important gene associated with Enlarged Parietal Foramina is MSX2 (msh homeobox 2). Affiliated tissues include bone, and related mouse phenotypes are skeleton and limbs/digits/tail.

GeneReviews summary for msx2

Aliases & Classifications for Enlarged Parietal Foramina

About this section
Sources:
20GeneReviews, 21GeneTests, 22Genetics Home Reference, 46Novoseek, 63UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

enlarged parietal foramina 20 21 22
parietal foramina 22 46 63
foramina parietalia permagna 22
symmetric parietal foramina 20
cranium bifidum 22
catlin marks 22
pfm 22
fpp 22


Related Diseases for Enlarged Parietal Foramina

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Parietal Foramina 1 family:

enlarged parietal foramina Parietal Foramina 2

Diseases related to Enlarged Parietal Foramina via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis30.5MSX2
2parietal foramina 130.5MSX2
3synostosis30.4ALX4, MSX2
4parietal foramina 210.5
5parietal foramina with cleidocranial dysplasia10.5
6encephalocele10.5
7headache10.5
8dysostosis10.5
9spina bifida10.4
10spina bifida cystica10.4
11saethre-chotzen syndrome10.3
12cleidocranial dysplasia10.3
13cerebritis10.3
14osteoporosis10.3
15aplasia cutis congenita10.3
16potocki-shaffer syndrome10.3
17mental retardation10.3
18hydrocephalus10.3
19frontofacionasal dysplasia10.3
20meningoencephalocele10.3
21frontonasal dysplasia 110.3
22encephaloceles10.3
23occipital encephalocele10.3
24meningocele10.2
25imperforate anus10.2
26hemophilia10.1

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



Diseases related to enlarged parietal foramina

Symptoms for Enlarged Parietal Foramina

About this section

Drugs & Therapeutics for Enlarged Parietal Foramina

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Enlarged Parietal Foramina

Drug clinical trials:

Search ClinicalTrials for Enlarged Parietal Foramina

Search NIH Clinical Center for Enlarged Parietal Foramina

Search CenterWatch for Enlarged Parietal Foramina

Genetic Tests for Enlarged Parietal Foramina

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Enlarged Parietal Foramina:

id Genetic test Affiliating Genes
1 Enlarged Parietal Foramina21 MSX2

Anatomical Context for Enlarged Parietal Foramina

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Enlarged Parietal Foramina:

34
Bone

Animal Models for Enlarged Parietal Foramina or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Enlarged Parietal Foramina:

38
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 Enlarged Parietal Foramina

About this section
Sources:
53PubMed
See all sources

Articles related to Enlarged Parietal Foramina:

(show all 21)
idTitleAuthorsYear
1
Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. (23207976)
2013
2
Enlarged parietal foramina: a rare finding in a female Greek skull with unusual multiple Wormian bones and a rich parietal vascular network. (23543411)
2013
3
Enlarged parietal foramina: two rediscovered cases. (22383172)
2012
4
Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. (20586040)
2010
5
Enlarged parietal foramina: MR imaging features in the fetus and neonate. (16775301)
2006
6
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. (16319823)
2006
7
Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs. (16769502)
2006
8
Enlarged parietal foramina: association with cerebral venous and cortical anomalies. (10720293)
2000
9
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. (8644736)
1996
10
Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family. (7670261)
1995
11
Enlarged Parietal Foramina (20301307)
1993
12
Enlarged parietal foramina and craniosynostosis in an American Indian child. (2106245)
1990
13
Hereditary enlarged parietal foramina (foramina parietalia permagna). Prenatal diagnosis, evolution and family study. (3834376)
1985
14
Evolution of persistently enlarged parietal foramina. (5481147)
1970
15
A concordant craniofacial dysostosis with enlarged parietal foramina in twins. (5762068)
1969
16
Enlarged parietal foramina. (5227396)
1967
17
Diagnostic x-ray brief; enlarged parietal foramina. (13447267)
1957
18
Enlarged parietal foramina; a collection of examples from radiologic practices in Pennsylvania. (13368837)
1956
19
Enlarged parietal foramina and similar shadows seen in osteoporosis circumscripta; two cases. (20987900)
1946
20
A Case of Enlarged Parietal Foramina associated with Metropism and Irregular Synostosis of the Coronal Suture. (17104407)
1932
21
Skull showing Perforations of Parietal Bone, or Enlarged Parietal Foramina. (17104226)
1929

Variations for Enlarged Parietal Foramina

About this section

Expression for genes affiliated with Enlarged Parietal Foramina

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Enlarged Parietal Foramina

Search GEO for disease gene expression data for Enlarged Parietal Foramina.

Pathways for genes affiliated with Enlarged Parietal Foramina

About this section

Compounds for genes affiliated with Enlarged Parietal Foramina

About this section

GO Terms for genes affiliated with Enlarged Parietal Foramina

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Enlarged Parietal Foramina according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1ALX4, MSX2

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

idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:0099529.1ALX4, MSX2
2embryonic hindlimb morphogenesisGO:0351169.0ALX4, MSX2
3embryonic forelimb morphogenesisGO:0351158.8ALX4, MSX2

Molecular functions related to Enlarged Parietal Foramina according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1ALX4, MSX2

Products for genes affiliated with Enlarged Parietal Foramina

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Enlarged Parietal Foramina

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet