MCID: PRT059
MIFTS: 27

Parietal Foramina 1

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

Aliases & Classifications for Parietal Foramina 1

MalaCards integrated aliases for Parietal Foramina 1:

Name: Parietal Foramina 1 53 71 28 13 69
Parietal Foramina, Symmetric 53 71
Foramina Parietalia Permagna 53 71
Cranium Bifidum, Hereditary 53 71
Cranium Bifidum Occultum 53 71
Catlin Marks 53 71
Pfm1 53 71
Pfm 53 71
Fpp 53 71
Foramina Parietalia Permagna; Fpp 53
Enlarged Parietal Foramina 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
parietal foramina-2 (pfm2, ) are caused by mutations in the alx4 gene
see also pfm3 on chromosome 4q21-q23


HPO:

31
parietal foramina 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Parietal Foramina 1

OMIM : 53 Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by Spruijt et al., 2005). (168500)

MalaCards based summary : Parietal Foramina 1, also known as parietal foramina, symmetric, is related to frontonasal dysplasia 1 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.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Parietal Foramina 1

Diseases in the Parietal Foramina family:

Parietal Foramina 1 Parietal Foramina 3
Parietal Foramina 2

Diseases related to Parietal Foramina 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 1 11.6
2 parietal foramina 2 11.0
3 parietal foramina 10.9
4 hemophilia a 9.9
5 hemophilia 9.9

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
headache
seizures

Skeletal Skull:
symmetrical, oval parietal bone defects
cranium bifidum

Head And Neck Mouth:
cleft palate
cleft lip

Skin Nails Hair Skin:
scalp defect


Clinical features from OMIM:

168500

Human phenotypes related to Parietal Foramina 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 headache 31 HP:0002315
2 seizures 31 HP:0001250
3 cleft palate 31 HP:0000175
4 cleft upper lip 31 HP:0000204
5 encephalocele 31 HP:0002084
6 parietal foramina 31 HP:0002697
7 symmetrical, oval parietal bone defects 31 HP:0002695
8 aplasia cutis congenita of scalp 31 HP:0007385

UMLS symptoms related to Parietal Foramina 1:


seizures, headache

Drugs & Therapeutics for Parietal Foramina 1

Search Clinical Trials , NIH Clinical Center for Parietal Foramina 1

Genetic Tests for Parietal Foramina 1

Genetic tests related to Parietal Foramina 1:

# Genetic test Affiliating Genes
1 Parietal Foramina 1 28 MSX2

Anatomical Context for Parietal Foramina 1

MalaCards organs/tissues related to Parietal Foramina 1:

38
Bone

Publications for Parietal Foramina 1

Articles related to Parietal Foramina 1:

# Title Authors Year
1
Foramina parietalia permagna in a Nigerian family. ( 20306736 )
2009
2
A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly. ( 16642368 )
2006
3
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). ( 16222674 )
2005
4
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). ( 11106354 )
2000
5
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. ( 10767351 )
2000
6
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. ( 9714004 )
1998
7
Hereditary enlarged parietal foramina (foramina parietalia permagna). Prenatal diagnosis, evolution and family study. ( 3834376 )
1985

Variations for Parietal Foramina 1

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

71
# 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
# 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

Sources for Parietal Foramina 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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