MCID: PRT042
MIFTS: 37

Parietal Foramina

Categories: Bone diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Parietal Foramina

MalaCards integrated aliases for Parietal Foramina:

Name: Parietal Foramina 12 25 55 44 15
Enlarged Parietal Foramina 12 24 25 59 6
Symmetric Parietal Foramina 24 25 59
Hereditary Cranium Bifidum 12 25 59
Foramina Parietalia Permagna 25 59
Catlin Marks 25 59
Fenestrae Parietales Symmetricae 59
Fenestrae Parietals Symmetricae 25
Cranium Bifidum Occultum 25
Giant Parietal Foramina 25
Foramina, Parietal 40
Cranium Bifidum 25
Caitlin Marks 12
Pfm 25
Fpp 25

Characteristics:

Orphanet epidemiological data:

59
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;

GeneReviews:

24
Penetrance Penetrance is approximately 90% overall for either msx2 or alx4 pathogenic variants. several individuals with a documented pathogenic variant showed no radiographic evidence of enlarged parietal foramina [wilkie et al 2000, mavrogiannis et al 2001, mavrogiannis et al 2006]...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060285
MeSH 44 C566826
Orphanet 59 ORPHA60015
UMLS via Orphanet 74 C1868598
ICD10 via Orphanet 34 Q75.8
UMLS 73 C1868598

Summaries for Parietal Foramina

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, also known as enlarged parietal foramina, is related to parietal foramina with cleidocranial dysplasia and potocki-shaffer syndrome. An important gene associated with Parietal Foramina is ALX4 (ALX Homeobox 4), and among its related pathways/superpathways are Signaling by BMP and Notch-mediated HES/HEY network. Affiliated tissues include bone and skin, and related phenotypes are craniofacial and growth/size/body region

GeneReviews: NBK1128

Related Diseases for Parietal Foramina

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



Diseases related to Parietal Foramina

Symptoms & Phenotypes for Parietal Foramina

MGI Mouse Phenotypes related to Parietal Foramina:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10 ALX4 BMPR1B CBFB MSX2 RECQL4 RUNX2
2 growth/size/body region MP:0005378 9.97 BMPR1B CBFB MSX2 RECQL4 RUNX2 SLC35C1
3 digestive/alimentary MP:0005381 9.91 ALX4 CBFB MSX2 RECQL4 RUNX2 TWIST1
4 embryo MP:0005380 9.88 ALX4 BMPR1B CBFB MSX2 RECQL4 TWIST1
5 mortality/aging MP:0010768 9.81 ALX4 BMPR1B CBFB MSX2 PHF21A RECQL4
6 integument MP:0010771 9.8 ALX4 CBFB MSX2 RECQL4 RUNX2 SLC35C1
7 limbs/digits/tail MP:0005371 9.8 ALX4 BMPR1B CBFB MSX2 RECQL4 RUNX2
8 skeleton MP:0005390 9.5 ALX4 BMPR1B CBFB MSX2 RECQL4 RUNX2
9 vision/eye MP:0005391 9.1 ALX4 BMPR1B CBFB MSX2 RECQL4 RUNX2

Drugs & Therapeutics for Parietal Foramina

Search Clinical Trials , NIH Clinical Center for Parietal Foramina

Cochrane evidence based reviews: parietal foramina

Genetic Tests for Parietal Foramina

Anatomical Context for Parietal Foramina

MalaCards organs/tissues related to Parietal Foramina:

41
Bone, Skin

Publications for Parietal Foramina

Articles related to Parietal Foramina:

(show all 42)
# Title Authors Year
1
Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis. ( 29416828 )
2018
2
'Holes in the head': a case of enlarged parietal foramina. ( 28232462 )
2017
3
[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation]. ( 27349084 )
2016
4
Enlarged parietal foramina: a rare forensic autopsy finding. ( 26233611 )
2016
5
ALX4 related parietal foramina mimicking encephalocele in antenatal period. ( 27080046 )
2016
6
Enlarged parietal foramina presenting as scalp swelling in an infant. ( 26358027 )
2015
7
Enlarged parietal foramina. ( 25253662 )
2014
8
Multiple occipital, parietal, temporal, and frontal foramina: a variant of enlarged parietal foramina in an infant. ( 25667790 )
2014
9
Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. ( 23207976 )
2013
10
Enlarged parietal foramina: a rare finding in a female Greek skull with unusual multiple Wormian bones and a rich parietal vascular network. ( 23543411 )
2013
11
Skull fractures through parietal foramina: report of two cases. ( 22592614 )
2012
12
Enlarged parietal foramina: two rediscovered cases. ( 22383172 )
2012
13
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. ( 22140057 )
2012
14
Distal 5q deletion with associated parietal foramina. ( 19952731 )
2010
15
Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. ( 20586040 )
2010
16
Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs. ( 16769502 )
2006
17
Enlarged parietal foramina: MR imaging features in the fetus and neonate. ( 16775301 )
2006
18
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. ( 16319823 )
2006
19
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. ( 15924278 )
2005
20
Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation. ( 15569759 )
2004
21
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. ( 14571277 )
2003
22
Parietal foramina are not synonymous with giant parietal foramina. ( 12944704 )
2003
23
A novel locus for parietal foramina maps to chromosome 4q21-q23. ( 12905082 )
2003
24
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. ( 11017806 )
2000
25
Enlarged parietal foramina: association with cerebral venous and cortical anomalies. ( 10720293 )
2000
26
Holes in the head: parietal foramina, a developmental anomaly seen during a routine orthodontic assessment. ( 17294629 )
1998
27
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
28
Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family. ( 7670261 )
1995
29
Enlarged Parietal Foramina ( 20301307 )
1993
30
Enlarged parietal foramina and craniosynostosis in an American Indian child. ( 2106245 )
1990
31
Parietal foramina in the Saethre-Chotzen syndrome. ( 4078875 )
1985
32
Hereditary enlarged parietal foramina (foramina parietalia permagna). Prenatal diagnosis, evolution and family study. ( 3834376 )
1985
33
Parietal foramina complicated by meningocele. ( 4064024 )
1985
34
Parietal foramina in Saethre-Chotzen syndrome. ( 6502651 )
1984
35
Evolution of persistently enlarged parietal foramina. ( 5481147 )
1970
36
A concordant craniofacial dysostosis with enlarged parietal foramina in twins. ( 5762068 )
1969
37
Enlarged parietal foramina. ( 5227396 )
1967
38
Diagnostic x-ray brief; enlarged parietal foramina. ( 13447267 )
1957
39
Enlarged parietal foramina; a collection of examples from radiologic practices in Pennsylvania. ( 13368837 )
1956
40
Enlarged parietal foramina and similar shadows seen in osteoporosis circumscripta; two cases. ( 20987900 )
1946
41
A Case of Enlarged Parietal Foramina associated with Metropism and Irregular Synostosis of the Coronal Suture. ( 17104407 )
1932
42
Skull showing Perforations of Parietal Bone, or Enlarged Parietal Foramina. ( 17104226 )
1929

Variations for Parietal Foramina

ClinVar genetic disease variations for Parietal Foramina:

6
(show top 50) (show all 292)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSX2 NM_002449.4(MSX2): c.386T> C (p.Met129Thr) single nucleotide variant Benign rs4242182 GRCh37 Chromosome 5, 174156168: 174156168
2 MSX2 NM_002449.4(MSX2): c.386T> C (p.Met129Thr) single nucleotide variant Benign rs4242182 GRCh38 Chromosome 5, 174729165: 174729165
3 MSX2 NM_002449.4(MSX2): c.*102C> T single nucleotide variant Uncertain significance rs886060426 GRCh38 Chromosome 5, 174729685: 174729685
4 MSX2 NM_002449.4(MSX2): c.*102C> T single nucleotide variant Uncertain significance rs886060426 GRCh37 Chromosome 5, 174156688: 174156688
5 MSX2 NM_002449.4(MSX2): c.*257T> C single nucleotide variant Likely benign rs187794452 GRCh37 Chromosome 5, 174156843: 174156843
6 MSX2 NM_002449.4(MSX2): c.*257T> C single nucleotide variant Likely benign rs187794452 GRCh38 Chromosome 5, 174729840: 174729840
7 MSX2 NM_002449.4(MSX2): c.*349T> C single nucleotide variant Likely benign rs114567531 GRCh37 Chromosome 5, 174156935: 174156935
8 MSX2 NM_002449.4(MSX2): c.*349T> C single nucleotide variant Likely benign rs114567531 GRCh38 Chromosome 5, 174729932: 174729932
9 MSX2 NM_002449.4(MSX2): c.*363A> G single nucleotide variant Uncertain significance rs376258231 GRCh37 Chromosome 5, 174156949: 174156949
10 MSX2 NM_002449.4(MSX2): c.*363A> G single nucleotide variant Uncertain significance rs376258231 GRCh38 Chromosome 5, 174729946: 174729946
11 MSX2 NM_002449.4(MSX2): c.*416A> C single nucleotide variant Likely benign rs10038500 GRCh37 Chromosome 5, 174157002: 174157002
12 MSX2 NM_002449.4(MSX2): c.*416A> C single nucleotide variant Likely benign rs10038500 GRCh38 Chromosome 5, 174729999: 174729999
13 MSX2 NM_002449.4(MSX2): c.*601C> T single nucleotide variant Uncertain significance rs886060430 GRCh37 Chromosome 5, 174157187: 174157187
14 MSX2 NM_002449.4(MSX2): c.*601C> T single nucleotide variant Uncertain significance rs886060430 GRCh38 Chromosome 5, 174730184: 174730184
15 MSX2 NM_002449.4(MSX2): c.*723A> C single nucleotide variant Likely benign rs115604243 GRCh37 Chromosome 5, 174157309: 174157309
16 MSX2 NM_002449.4(MSX2): c.*723A> C single nucleotide variant Likely benign rs115604243 GRCh38 Chromosome 5, 174730306: 174730306
17 MSX2 NM_002449.4(MSX2): c.*1086dupG duplication Likely benign rs886060433 GRCh37 Chromosome 5, 174157672: 174157672
18 MSX2 NM_002449.4(MSX2): c.*1086dupG duplication Likely benign rs886060433 GRCh38 Chromosome 5, 174730669: 174730669
19 MSX2 NM_002449.4(MSX2): c.-17C> G single nucleotide variant Likely benign rs4647952 GRCh38 Chromosome 5, 174724643: 174724643
20 MSX2 NM_002449.4(MSX2): c.-17C> G single nucleotide variant Likely benign rs4647952 GRCh37 Chromosome 5, 174151646: 174151646
21 MSX2 NM_002449.4(MSX2): c.699G> A (p.Ala233=) single nucleotide variant Benign/Likely benign rs201880865 GRCh38 Chromosome 5, 174729478: 174729478
22 MSX2 NM_002449.4(MSX2): c.699G> A (p.Ala233=) single nucleotide variant Benign/Likely benign rs201880865 GRCh37 Chromosome 5, 174156481: 174156481
23 MSX2 NM_002449.4(MSX2): c.*144C> T single nucleotide variant Uncertain significance rs530005338 GRCh37 Chromosome 5, 174156730: 174156730
24 MSX2 NM_002449.4(MSX2): c.*144C> T single nucleotide variant Uncertain significance rs530005338 GRCh38 Chromosome 5, 174729727: 174729727
25 MSX2 NM_002449.4(MSX2): c.*172G> A single nucleotide variant Likely benign rs577291689 GRCh37 Chromosome 5, 174156758: 174156758
26 MSX2 NM_002449.4(MSX2): c.*172G> A single nucleotide variant Likely benign rs577291689 GRCh38 Chromosome 5, 174729755: 174729755
27 MSX2 NM_002449.4(MSX2): c.*289A> G single nucleotide variant Uncertain significance rs886060427 GRCh37 Chromosome 5, 174156875: 174156875
28 MSX2 NM_002449.4(MSX2): c.*289A> G single nucleotide variant Uncertain significance rs886060427 GRCh38 Chromosome 5, 174729872: 174729872
29 MSX2 NM_002449.4(MSX2): c.*526T> C single nucleotide variant Uncertain significance rs532200136 GRCh37 Chromosome 5, 174157112: 174157112
30 MSX2 NM_002449.4(MSX2): c.*526T> C single nucleotide variant Uncertain significance rs532200136 GRCh38 Chromosome 5, 174730109: 174730109
31 MSX2 NM_002449.4(MSX2): c.*530A> G single nucleotide variant Uncertain significance rs886060429 GRCh37 Chromosome 5, 174157116: 174157116
32 MSX2 NM_002449.4(MSX2): c.*530A> G single nucleotide variant Uncertain significance rs886060429 GRCh38 Chromosome 5, 174730113: 174730113
33 MSX2 NM_002449.4(MSX2): c.*863A> G single nucleotide variant Uncertain significance rs886060431 GRCh37 Chromosome 5, 174157449: 174157449
34 MSX2 NM_002449.4(MSX2): c.*863A> G single nucleotide variant Uncertain significance rs886060431 GRCh38 Chromosome 5, 174730446: 174730446
35 MSX2 NM_002449.4(MSX2): c.*1006dupA duplication Benign rs397692104 GRCh37 Chromosome 5, 174157592: 174157592
36 MSX2 NM_002449.4(MSX2): c.*1006dupA duplication Benign rs397692104 GRCh38 Chromosome 5, 174730589: 174730589
37 MSX2 NM_002449.4(MSX2): c.*1007T> A single nucleotide variant Likely benign rs74292295 GRCh37 Chromosome 5, 174157593: 174157593
38 MSX2 NM_002449.4(MSX2): c.*1007T> A single nucleotide variant Likely benign rs74292295 GRCh38 Chromosome 5, 174730590: 174730590
39 MSX2 NM_002449.4(MSX2): c.*1146T> C single nucleotide variant Benign rs2890848 GRCh37 Chromosome 5, 174157732: 174157732
40 MSX2 NM_002449.4(MSX2): c.*1146T> C single nucleotide variant Benign rs2890848 GRCh38 Chromosome 5, 174730729: 174730729
41 MSX2 NM_002449.4(MSX2): c.*1176G> C single nucleotide variant Benign rs2890849 GRCh37 Chromosome 5, 174157762: 174157762
42 MSX2 NM_002449.4(MSX2): c.*1176G> C single nucleotide variant Benign rs2890849 GRCh38 Chromosome 5, 174730759: 174730759
43 MSX2 NM_002449.4(MSX2): c.-50C> T single nucleotide variant Uncertain significance rs371076863 GRCh38 Chromosome 5, 174724610: 174724610
44 MSX2 NM_002449.4(MSX2): c.-50C> T single nucleotide variant Uncertain significance rs371076863 GRCh37 Chromosome 5, 174151613: 174151613
45 MSX2 NM_002449.4(MSX2): c.*46G> T single nucleotide variant Uncertain significance rs375964205 GRCh38 Chromosome 5, 174729629: 174729629
46 MSX2 NM_002449.4(MSX2): c.*46G> T single nucleotide variant Uncertain significance rs375964205 GRCh37 Chromosome 5, 174156632: 174156632
47 MSX2 NM_002449.4(MSX2): c.-42C> T single nucleotide variant Uncertain significance rs758437365 GRCh38 Chromosome 5, 174724618: 174724618
48 MSX2 NM_002449.4(MSX2): c.-42C> T single nucleotide variant Uncertain significance rs758437365 GRCh37 Chromosome 5, 174151621: 174151621
49 MSX2 NM_002449.4(MSX2): c.635C> G (p.Ala212Gly) single nucleotide variant Uncertain significance rs775062909 GRCh38 Chromosome 5, 174729414: 174729414
50 MSX2 NM_002449.4(MSX2): c.635C> G (p.Ala212Gly) single nucleotide variant Uncertain significance rs775062909 GRCh37 Chromosome 5, 174156417: 174156417

Expression for Parietal Foramina

Search GEO for disease gene expression data for Parietal Foramina.

Pathways for Parietal Foramina

Pathways related to Parietal Foramina according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.81 BMPR1B RUNX2
2 10.3 RUNX2 TWIST1

GO Terms for Parietal Foramina

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 ALX4 BMPR1B CBFB RUNX2 TWIST1
2 skeletal system development GO:0001501 9.69 ALX4 BMPR1B RUNX2
3 BMP signaling pathway GO:0030509 9.65 BMPR1B MSX2 RUNX2
4 embryonic limb morphogenesis GO:0030326 9.62 MSX2 TWIST1
5 embryonic skeletal system morphogenesis GO:0048704 9.61 ALX4 TWIST1
6 skeletal system morphogenesis GO:0048705 9.61 ALX4 RUNX2
7 embryonic digit morphogenesis GO:0042733 9.61 ALX4 MSX2 TWIST1
8 chondrocyte differentiation GO:0002062 9.6 BMPR1B RUNX2
9 cell maturation GO:0048469 9.59 CBFB RUNX2
10 cellular response to BMP stimulus GO:0071773 9.58 BMPR1B RUNX2
11 odontogenesis GO:0042476 9.58 MSX2 TWIST1
12 positive regulation of osteoblast differentiation GO:0045669 9.58 BMPR1B MSX2 RUNX2
13 embryonic cranial skeleton morphogenesis GO:0048701 9.57 RUNX2 TWIST1
14 stem cell differentiation GO:0048863 9.56 MSX2 RUNX2
15 osteoblast differentiation GO:0001649 9.56 CBFB MSX2 RUNX2 TWIST1
16 limb morphogenesis GO:0035108 9.55 ALX4 BMPR1B
17 cellular response to growth factor stimulus GO:0071363 9.54 BMPR1B MSX2 TWIST1
18 positive regulation of chondrocyte differentiation GO:0032332 9.52 BMPR1B RUNX2
19 embryonic hindlimb morphogenesis GO:0035116 9.5 ALX4 MSX2 TWIST1
20 osteoblast development GO:0002076 9.49 MSX2 RUNX2
21 cranial suture morphogenesis GO:0060363 9.46 MSX2 TWIST1
22 ossification GO:0001503 9.46 CBFB MSX2 RUNX2 TWIST1
23 chondrocyte development GO:0002063 9.13 BMPR1B MSX2 RUNX2
24 embryonic forelimb morphogenesis GO:0035115 8.92 ALX4 MSX2 RUNX2 TWIST1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.72 ALX4 CBFB MSX2 RUNX2 TWIST1
2 DNA binding GO:0003677 9.5 ALX4 CBFB MSX2 PHF21A RECQL4 RUNX2
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.43 ALX4 MSX2 PHF21A
4 bHLH transcription factor binding GO:0043425 9.16 RUNX2 TWIST1
5 transcription coregulator activity GO:0003712 8.8 CBFB MSX2 PHF21A

Sources for Parietal Foramina

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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