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

Aliases & Descriptions for Parietal Foramina 1:

Name: Parietal Foramina 1 54 24 66 29 13 69
Enlarged Parietal Foramina 12 23 24 25 56 66
Parietal Foramina 12 25 29 52 42 14
Symmetric Parietal Foramina 23 24 25 56
Foramina Parietalia Permagna 25 56 66
Hereditary Cranium Bifidum 12 25 56
Cranium Bifidum Occultum 24 25 66
Catlin Marks 25 56 66
Parietal Foramina, Symmetric 24 66
Fpp 25 66
Pfm 25 66
Fenestrae Parietales Symmetricae 56
Fenestrae Parietals Symmetricae 25
Msx2-Related Parietal Foramina 24
Cranium Bifidum, Hereditary 66
Giant Parietal Foramina 25
Cranium Bifidum 25
Caitlin Marks 12
Pfm1 66

Characteristics:

Orphanet epidemiological data:

56
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:

23
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:

OMIM 54 168500
Disease Ontology 12 DOID:0060285
Orphanet 56 ORPHA60015
ICD10 via Orphanet 34 Q75.8
UMLS 69 C1868598

Summaries for Parietal Foramina 1

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, seizures and cleft palate. An important gene associated with Parietal Foramina 1 is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, and related phenotypes are behavior/neurological and embryo

UniProtKB/Swiss-Prot : 66 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: 168500
GeneReviews: NBK1128

Related Diseases for Parietal Foramina 1

Graphical network of the top 20 diseases related to Parietal Foramina 1:



Diseases related to Parietal Foramina 1

Symptoms & Phenotypes for Parietal Foramina 1

Symptoms by clinical synopsis from OMIM:

168500

Clinical features from OMIM:

168500

Human phenotypes related to Parietal Foramina 1:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 headache 32 HP:0002315
2 seizures 32 HP:0001250
3 cleft palate 32 HP:0000175
4 cleft upper lip 32 HP:0000204
5 encephalocele 32 HP:0002084
6 parietal foramina 32 HP:0002697
7 symmetrical, oval parietal bone defects 32 HP:0002695
8 aplasia cutis congenita of scalp 32 HP:0007385

UMLS symptoms related to Parietal Foramina 1:


headache, seizures

MGI Mouse Phenotypes related to Parietal Foramina 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ALX1 ALX3 ALX4 MSX1 MSX2 PHF21A
2 embryo MP:0005380 9.88 ALX1 ALX3 ALX4 EXT2 MSX1 MSX2
3 mortality/aging MP:0010768 9.86 ALX1 ALX3 ALX4 EXT2 MSX1 MSX2
4 craniofacial MP:0005382 9.85 ALX1 ALX3 ALX4 MSX1 MSX2
5 growth/size/body region MP:0005378 9.85 ALX1 ALX3 ALX4 MSX1 MSX2 SLC35C1
6 digestive/alimentary MP:0005381 9.83 ALX1 ALX3 ALX4 MSX1 MSX2
7 limbs/digits/tail MP:0005371 9.72 ALX1 ALX3 ALX4 MSX1 MSX2
8 respiratory system MP:0005388 9.55 ALX1 ALX3 ALX4 MSX1 SLC35C1
9 skeleton MP:0005390 9.43 ALX1 ALX3 ALX4 EXT2 MSX1 MSX2
10 vision/eye MP:0005391 9.02 ALX1 ALX3 ALX4 MSX1 MSX2

Drugs & Therapeutics for Parietal Foramina 1

Search Clinical Trials , NIH Clinical Center for Parietal Foramina 1

Cochrane evidence based reviews: parietal foramina

Genetic Tests for Parietal Foramina 1

Genetic tests related to Parietal Foramina 1:

id Genetic test Affiliating Genes
1 Parietal Foramina 1 29 24 MSX2
2 Parietal Foramina 29
3 Enlarged Parietal Foramina 24 MSX2

Anatomical Context for Parietal Foramina 1

MalaCards organs/tissues related to Parietal Foramina 1:

39
Bone

Publications for Parietal Foramina 1

Variations for Parietal Foramina 1

UniProtKB/Swiss-Prot genetic disease variations for Parietal Foramina 1:

66
id Symbol AA change Variation ID SNP ID
1 MSX2 p.Arg172His VAR_010201 rs104893896
2 MSX2 p.Leu154Pro VAR_010786

ClinVar genetic disease variations for Parietal Foramina 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MSX2 MSX2, 6-BP DEL, NT475 deletion Pathogenic
2 MSX2 NM_002449.4(MSX2): c.515G> A (p.Arg172His) single nucleotide variant Pathogenic rs104893896 GRCh37 Chromosome 5, 174156297: 174156297
3 MSX2 nsv513767 deletion Pathogenic
4 MSX2 NM_002449.4(MSX2): c.265_266delGCinsTA (p.Ala89Ter) indel Pathogenic rs121912971 GRCh37 Chromosome 5, 174151927: 174151928
5 MSX2 NM_002449.4(MSX2): c.345delG (p.Trp115Terfs) deletion Pathogenic rs121912972 GRCh37 Chromosome 5, 174152007: 174152007
6 MSX2 MSX2, 8-BP DEL, NT548 deletion Pathogenic

Expression for Parietal Foramina 1

Search GEO for disease gene expression data for Parietal Foramina 1.

Pathways for Parietal Foramina 1

GO Terms for Parietal Foramina 1

Biological processes related to Parietal Foramina 1 according to GeneCards Suite gene sharing:

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 ALX1 ALX3 ALX4 MSX1 MSX2
2 regulation of apoptotic process GO:0042981 9.78 ALX3 ALX4 MSX2
3 palate development GO:0060021 9.67 ALX1 ALX4 MSX1
4 muscle organ development GO:0007517 9.64 ALX4 MSX1
5 ossification GO:0001503 9.63 EXT2 MSX2
6 BMP signaling pathway GO:0030509 9.63 MSX1 MSX2
7 embryonic digit morphogenesis GO:0042733 9.63 ALX4 MSX1 MSX2
8 cartilage development GO:0051216 9.62 MSX1 MSX2
9 pattern specification process GO:0007389 9.62 ALX3 ALX4
10 positive regulation of BMP signaling pathway GO:0030513 9.61 MSX1 MSX2
11 embryonic limb morphogenesis GO:0030326 9.61 ALX1 MSX1 MSX2
12 odontogenesis GO:0042476 9.6 MSX1 MSX2
13 stem cell differentiation GO:0048863 9.59 MSX1 MSX2
14 bone morphogenesis GO:0060349 9.58 MSX1 MSX2
15 embryonic skeletal system morphogenesis GO:0048704 9.58 ALX1 ALX3 ALX4
16 signal transduction involved in regulation of gene expression GO:0023019 9.56 MSX1 MSX2
17 negative regulation of transcription regulatory region DNA binding GO:2000678 9.54 MSX1 MSX2
18 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.52 MSX1 MSX2
19 mammary gland epithelium development GO:0061180 9.51 MSX1 MSX2
20 BMP signaling pathway involved in heart development GO:0061312 9.48 MSX1 MSX2
21 anterior/posterior pattern specification GO:0009952 9.46 ALX1 ALX4 MSX1 MSX2
22 embryonic nail plate morphogenesis GO:0035880 9.37 MSX1 MSX2
23 positive regulation of mesenchymal cell apoptotic process GO:2001055 9.32 MSX1 MSX2
24 activation of meiosis GO:0090427 9.26 MSX1 MSX2
25 embryonic forelimb morphogenesis GO:0035115 9.26 ALX3 ALX4 MSX1 MSX2
26 embryonic hindlimb morphogenesis GO:0035116 8.92 ALX3 ALX4 MSX1 MSX2
27 regulation of transcription, DNA-templated GO:0006355 10.05 ALX1 ALX3 ALX4 MSX1 MSX2 PHF21A
28 transcription, DNA-templated GO:0006351 10.04 ALX1 ALX3 ALX4 MSX1 MSX2 PHF21A

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.77 ALX1 ALX4 MSX1 MSX2 PHF21A
2 protein heterodimerization activity GO:0046982 9.58 ALX1 ALX4 EXT2
3 sequence-specific DNA binding GO:0043565 9.35 ALX1 ALX3 ALX4 MSX1 MSX2
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.33 ALX1 ALX4 MSX1
5 transcription cofactor activity GO:0003712 9.32 MSX2 PHF21A
6 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001227 9.26 MSX1 MSX2
7 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.02 ALX1 ALX4 MSX1 MSX2 PHF21A

Sources for Parietal Foramina 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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