FPP
MCID: ENL009
MIFTS: 33

Enlarged Parietal Foramina (FPP) malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Enlarged Parietal Foramina

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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: Enlarged Parietal Foramina, also known as parietal foramina, is related to parietal foramina 1 and craniosynostosis. 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

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Enlarged Parietal Foramina, Aliases & Descriptions:

Name: Enlarged Parietal Foramina 19 20 21 62
Parietal Foramina 21 44 62
Foramina Parietalia Permagna 21 62
Cranium Bifidum 21 62
Parietal Foramina, Symmetric 62
 
Symmetric Parietal Foramina 19
Catlin Marks 21
Pfm 21
Fpp 21


Classifications:

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


Related Diseases for Enlarged Parietal Foramina

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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 25)
idRelated DiseaseScoreTop Affiliating Genes
1parietal foramina 130.8MSX2
2craniosynostosis30.6MSX2
3synostosis30.1ALX4, MSX2
4parietal foramina 210.6
5parietal foramina with cleidocranial dysplasia10.6
6encephalocele10.6
7headache10.5
8dysostosis10.5
9potocki-shaffer syndrome10.5
10spina bifida10.4
11saethre-chotzen syndrome10.4
12cleidocranial dysplasia10.4
13osteoporosis10.3
14cerebritis10.3
15aplasia cutis congenita10.3
16mental retardation10.3
17hydrocephalus10.3
18frontofacionasal dysplasia10.3
19frontonasal dysplasia10.3
20meningoencephalocele10.3
21frontonasal dysplasia 110.3
22occipital encephalocele10.3
23meningocele10.2
24imperforate anus10.2
25hemophilia10.1

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



Diseases related to enlarged parietal foramina

Symptoms for Enlarged Parietal Foramina

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Drugs & Therapeutics for Enlarged Parietal Foramina

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Drug clinical trials:

Search ClinicalTrials for Enlarged Parietal Foramina

Search NIH Clinical Center for Enlarged Parietal Foramina

Genetic Tests for Enlarged Parietal Foramina

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Genetic tests related to Enlarged Parietal Foramina:

id Genetic test Affiliating Genes
1 Enlarged Parietal Foramina20 MSX2

Anatomical Context for Enlarged Parietal Foramina

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MalaCards organs/tissues related to Enlarged Parietal Foramina:

32
Bone

Animal Models for Enlarged Parietal Foramina or affiliated genes

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MGI Mouse Phenotypes related to Enlarged Parietal Foramina:

36
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

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Articles related to Enlarged Parietal Foramina:

(show all 22)
idTitleAuthorsYear
1
Enlarged parietal foramina. (25253662)
2014
2
Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. (23207976)
2013
3
Enlarged parietal foramina: a rare finding in a female Greek skull with unusual multiple Wormian bones and a rich parietal vascular network. (23543411)
2013
4
Enlarged parietal foramina: two rediscovered cases. (22383172)
2012
5
Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. (20586040)
2010
6
Enlarged parietal foramina: MR imaging features in the fetus and neonate. (16775301)
2006
7
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. (16319823)
2006
8
Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs. (16769502)
2006
9
Enlarged parietal foramina: association with cerebral venous and cortical anomalies. (10720293)
2000
10
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
11
Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family. (7670261)
1995
12
Enlarged Parietal Foramina (20301307)
1993
13
Enlarged parietal foramina and craniosynostosis in an American Indian child. (2106245)
1990
14
Hereditary enlarged parietal foramina (foramina parietalia permagna). Prenatal diagnosis, evolution and family study. (3834376)
1985
15
Evolution of persistently enlarged parietal foramina. (5481147)
1970
16
A concordant craniofacial dysostosis with enlarged parietal foramina in twins. (5762068)
1969
17
Enlarged parietal foramina. (5227396)
1967
18
Diagnostic x-ray brief; enlarged parietal foramina. (13447267)
1957
19
Enlarged parietal foramina; a collection of examples from radiologic practices in Pennsylvania. (13368837)
1956
20
Enlarged parietal foramina and similar shadows seen in osteoporosis circumscripta; two cases. (20987900)
1946
21
A Case of Enlarged Parietal Foramina associated with Metropism and Irregular Synostosis of the Coronal Suture. (17104407)
1932
22
Skull showing Perforations of Parietal Bone, or Enlarged Parietal Foramina. (17104226)
1929

Variations for Enlarged Parietal Foramina

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Expression for genes affiliated with Enlarged Parietal Foramina

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Expression patterns in normal tissues for genes affiliated with Enlarged Parietal Foramina

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Pathways for genes affiliated with Enlarged Parietal Foramina

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Compounds for genes affiliated with Enlarged Parietal Foramina

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GO Terms for genes affiliated with Enlarged Parietal Foramina

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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

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Sources for Enlarged Parietal Foramina

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet