MCID: PRT059
MIFTS: 25

Parietal Foramina 1

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

Aliases & Classifications for Parietal Foramina 1

MalaCards integrated aliases for Parietal Foramina 1:

Name: Parietal Foramina 1 57 75 29 13 6 73
Cranium Bifidum Occultum 57 75 6
Parietal Foramina, Symmetric 57 75
Foramina Parietalia Permagna 57 75
Cranium Bifidum, Hereditary 57 75
Catlin Marks 57 75
Pfm1 57 75
Pfm 57 75
Fpp 57 75
Foramina Parietalia Permagna; Fpp 57
Enlarged Parietal Foramina 75

Characteristics:

OMIM:

57
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:

32
parietal foramina 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Parietal Foramina 1

OMIM : 57 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 cranium bifidum occultum, is related to frontonasal dysplasia 1 and parietal foramina 2, and has symptoms including headache and seizures. An important gene associated with Parietal Foramina 1 is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, and related phenotypes are seizures and cleft palate

UniProtKB/Swiss-Prot : 75 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 11.5
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:

57
Neurologic Central Nervous System:
seizures
headache

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 cleft palate 32 HP:0000175
3 headache 32 HP:0002315
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

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 29 MSX2

Anatomical Context for Parietal Foramina 1

MalaCards organs/tissues related to Parietal Foramina 1:

41
Bone

Publications for Parietal Foramina 1

Articles related to Parietal Foramina 1:

# Title Authors Year
1
Cranium Bifidum Occultum Associated with Hypertelorism Treated with Posterior Vault Reconstruction and Orbital Box Osteotomies: Case Report and Technical Note. ( 28522383 )
2017
2
Occipital encephalocele in a child with cranium bifidum occultum in the mother. ( 6642619 )
1983

Variations for Parietal Foramina 1

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

75
# 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
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSX2 NM_002449.4(MSX2): c.345delG (p.Trp115Terfs) deletion Pathogenic rs121912972 GRCh38 Chromosome 5, 174725004: 174725004
2 MSX2 MSX2, 6-BP DEL, NT475 deletion Pathogenic
3 MSX2 NM_002449.4(MSX2): c.515G> A (p.Arg172His) single nucleotide variant Pathogenic rs104893896 GRCh37 Chromosome 5, 174156297: 174156297
4 MSX2 NM_002449.4(MSX2): c.515G> A (p.Arg172His) single nucleotide variant Pathogenic rs104893896 GRCh38 Chromosome 5, 174729294: 174729294
5 MSX2 nsv513767 deletion Pathogenic
6 MSX2 NM_002449.4(MSX2): c.265_266delGCinsTA (p.Ala89Ter) indel Pathogenic rs121912971 GRCh37 Chromosome 5, 174151927: 174151928
7 MSX2 NM_002449.4(MSX2): c.265_266delGCinsTA (p.Ala89Ter) indel Pathogenic rs121912971 GRCh38 Chromosome 5, 174724924: 174724925
8 MSX2 NM_002449.4(MSX2): c.345delG (p.Trp115Terfs) deletion Pathogenic rs121912972 GRCh37 Chromosome 5, 174152007: 174152007
9 MSX2 MSX2, 8-BP DEL, NT548 deletion Pathogenic
10 MSX2 NM_002449.4(MSX2): c.699G> A (p.Ala233=) single nucleotide variant Benign/Likely benign rs201880865 GRCh38 Chromosome 5, 174729478: 174729478
11 MSX2 NM_002449.4(MSX2): c.699G> A (p.Ala233=) single nucleotide variant Benign/Likely benign rs201880865 GRCh37 Chromosome 5, 174156481: 174156481
12 MSX2 NM_002449.4(MSX2): c.360C> T (p.Gly120=) single nucleotide variant Likely benign rs778509123 GRCh37 Chromosome 5, 174152022: 174152022
13 MSX2 NM_002449.4(MSX2): c.360C> T (p.Gly120=) single nucleotide variant Likely benign rs778509123 GRCh38 Chromosome 5, 174725019: 174725019
14 MSX2 NM_002449.4(MSX2): c.698C> T (p.Ala233Val) single nucleotide variant Uncertain significance rs138053303 GRCh38 Chromosome 5, 174729477: 174729477
15 MSX2 NM_002449.4(MSX2): c.698C> T (p.Ala233Val) single nucleotide variant Uncertain significance rs138053303 GRCh37 Chromosome 5, 174156480: 174156480

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
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
Content
Loading form....