PFM1
MCID: PRT059
MIFTS: 30

Parietal Foramina 1 (PFM1)

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

Aliases & Classifications for Parietal Foramina 1

MalaCards integrated aliases for Parietal Foramina 1:

Name: Parietal Foramina 1 58 76 30 13 6 74
Parietal Foramina, Symmetric 58 76
Foramina Parietalia Permagna 58 76
Cranium Bifidum, Hereditary 58 76
Cranium Bifidum Occultum 58 76
Catlin Marks 58 76
Pfm1 58 76
Pfm 58 76
Fpp 58 76
Foramina Parietalia Permagna; Fpp 58
Enlarged Parietal Foramina 76

Characteristics:

OMIM:

58
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:

33
parietal foramina 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Parietal Foramina 1

Genetics Home Reference : 26 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 parietal foramina, symmetric, is related to frontonasal dysplasia 1 and potocki-shaffer syndrome, and has symptoms including seizures and headache. An important gene associated with Parietal Foramina 1 is MSX2 (Msh Homeobox 2). Affiliated tissues include bone and spinal cord, and related phenotypes are seizures and cleft palate

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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

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



Diseases related to Parietal Foramina 1

Symptoms & Phenotypes for Parietal Foramina 1

Human phenotypes related to Parietal Foramina 1:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 cleft palate 33 HP:0000175
3 headache 33 HP:0002315
4 cleft upper lip 33 HP:0000204
5 encephalocele 33 HP:0002084
6 parietal foramina 33 HP:0002697
7 symmetrical, oval parietal bone defects 33 HP:0002695
8 aplasia cutis congenita of scalp 33 HP:0007385

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MSX2

Anatomical Context for Parietal Foramina 1

MalaCards organs/tissues related to Parietal Foramina 1:

42
Bone, Spinal Cord

Publications for Parietal Foramina 1

Articles related to Parietal Foramina 1:

# Title Authors Year
1
Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature. ( 27975139 )
2017
2
Foramina parietalia permagna in a Nigerian family. ( 20306736 )
2009
3
A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly. ( 16642368 )
2006
4
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). ( 16222674 )
2005
5
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. ( 10742103 )
2000
6
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. ( 10767351 )
2000
7
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). ( 11106354 )
2000
8
PFM1 (PRDM4), a new member of the PR-domain family, maps to a tumor suppressor locus on human chromosome 12q23-q24.1. ( 10552934 )
1999
9
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. ( 9714004 )
1998
10
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:

76
# 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 top 50) (show all 306)
# 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 NM_002449.4(MSX2): c.515G> A (p.Arg172His) single nucleotide variant Pathogenic rs104893896 GRCh38 Chromosome 5, 174729294: 174729294
4 MSX2 nsv513767 deletion Pathogenic
5 MSX2 NM_002449.4(MSX2): c.265_266delGCinsTA (p.Ala89Ter) indel Pathogenic rs121912971 GRCh37 Chromosome 5, 174151927: 174151928
6 MSX2 NM_002449.4(MSX2): c.265_266delGCinsTA (p.Ala89Ter) indel Pathogenic rs121912971 GRCh38 Chromosome 5, 174724924: 174724925
7 MSX2 NM_002449.4(MSX2): c.345delG (p.Trp115Terfs) deletion Pathogenic rs121912972 GRCh37 Chromosome 5, 174152007: 174152007
8 MSX2 NM_002449.4(MSX2): c.345delG (p.Trp115Terfs) deletion Pathogenic rs121912972 GRCh38 Chromosome 5, 174725004: 174725004
9 MSX2 NM_002449.5(MSX2): c.548_555del (p.Glu183Glyfs) deletion Pathogenic GRCh37 Chromosome 5, 174156330: 174156337
10 MSX2 NM_002449.5(MSX2): c.548_555del (p.Glu183Glyfs) deletion Pathogenic GRCh38 Chromosome 5, 174729327: 174729334
11 MSX2 NM_002449.4(MSX2): c.443C> T (p.Pro148Leu) single nucleotide variant Likely pathogenic rs104893895 GRCh37 Chromosome 5, 174156225: 174156225
12 MSX2 NM_002449.4(MSX2): c.443C> T (p.Pro148Leu) single nucleotide variant Likely pathogenic rs104893895 GRCh38 Chromosome 5, 174729222: 174729222
13 MSX2 NM_002449.4(MSX2): c.386T> C (p.Met129Thr) single nucleotide variant Benign rs4242182 GRCh37 Chromosome 5, 174156168: 174156168
14 MSX2 NM_002449.4(MSX2): c.386T> C (p.Met129Thr) single nucleotide variant Benign rs4242182 GRCh38 Chromosome 5, 174729165: 174729165
15 MSX2 NM_002449.4(MSX2): c.*102C> T single nucleotide variant Uncertain significance rs886060426 GRCh38 Chromosome 5, 174729685: 174729685
16 MSX2 NM_002449.4(MSX2): c.*102C> T single nucleotide variant Uncertain significance rs886060426 GRCh37 Chromosome 5, 174156688: 174156688
17 MSX2 NM_002449.4(MSX2): c.*257T> C single nucleotide variant Likely benign rs187794452 GRCh37 Chromosome 5, 174156843: 174156843
18 MSX2 NM_002449.4(MSX2): c.*257T> C single nucleotide variant Likely benign rs187794452 GRCh38 Chromosome 5, 174729840: 174729840
19 MSX2 NM_002449.4(MSX2): c.*349T> C single nucleotide variant Likely benign rs114567531 GRCh37 Chromosome 5, 174156935: 174156935
20 MSX2 NM_002449.4(MSX2): c.*349T> C single nucleotide variant Likely benign rs114567531 GRCh38 Chromosome 5, 174729932: 174729932
21 MSX2 NM_002449.4(MSX2): c.*363A> G single nucleotide variant Uncertain significance rs376258231 GRCh37 Chromosome 5, 174156949: 174156949
22 MSX2 NM_002449.4(MSX2): c.*363A> G single nucleotide variant Uncertain significance rs376258231 GRCh38 Chromosome 5, 174729946: 174729946
23 MSX2 NM_002449.4(MSX2): c.*416A> C single nucleotide variant Likely benign rs10038500 GRCh37 Chromosome 5, 174157002: 174157002
24 MSX2 NM_002449.4(MSX2): c.*416A> C single nucleotide variant Likely benign rs10038500 GRCh38 Chromosome 5, 174729999: 174729999
25 MSX2 NM_002449.4(MSX2): c.*601C> T single nucleotide variant Uncertain significance rs886060430 GRCh37 Chromosome 5, 174157187: 174157187
26 MSX2 NM_002449.4(MSX2): c.*601C> T single nucleotide variant Uncertain significance rs886060430 GRCh38 Chromosome 5, 174730184: 174730184
27 MSX2 NM_002449.4(MSX2): c.*723A> C single nucleotide variant Likely benign rs115604243 GRCh37 Chromosome 5, 174157309: 174157309
28 MSX2 NM_002449.4(MSX2): c.*723A> C single nucleotide variant Likely benign rs115604243 GRCh38 Chromosome 5, 174730306: 174730306
29 MSX2 NM_002449.4(MSX2): c.*1086dupG duplication Likely benign rs145784193 GRCh37 Chromosome 5, 174157672: 174157672
30 MSX2 NM_002449.4(MSX2): c.*1086dupG duplication Likely benign rs145784193 GRCh38 Chromosome 5, 174730669: 174730669
31 MSX2 NM_002449.4(MSX2): c.-17C> G single nucleotide variant Likely benign rs4647952 GRCh38 Chromosome 5, 174724643: 174724643
32 MSX2 NM_002449.4(MSX2): c.-17C> G single nucleotide variant Likely benign rs4647952 GRCh37 Chromosome 5, 174151646: 174151646
33 MSX2 NM_002449.4(MSX2): c.699G> A (p.Ala233=) single nucleotide variant Benign/Likely benign rs201880865 GRCh38 Chromosome 5, 174729478: 174729478
34 MSX2 NM_002449.4(MSX2): c.699G> A (p.Ala233=) single nucleotide variant Benign/Likely benign rs201880865 GRCh37 Chromosome 5, 174156481: 174156481
35 MSX2 NM_002449.4(MSX2): c.*144C> T single nucleotide variant Uncertain significance rs530005338 GRCh37 Chromosome 5, 174156730: 174156730
36 MSX2 NM_002449.4(MSX2): c.*144C> T single nucleotide variant Uncertain significance rs530005338 GRCh38 Chromosome 5, 174729727: 174729727
37 MSX2 NM_002449.4(MSX2): c.*172G> A single nucleotide variant Likely benign rs577291689 GRCh37 Chromosome 5, 174156758: 174156758
38 MSX2 NM_002449.4(MSX2): c.*172G> A single nucleotide variant Likely benign rs577291689 GRCh38 Chromosome 5, 174729755: 174729755
39 MSX2 NM_002449.4(MSX2): c.*289A> G single nucleotide variant Uncertain significance rs886060427 GRCh37 Chromosome 5, 174156875: 174156875
40 MSX2 NM_002449.4(MSX2): c.*289A> G single nucleotide variant Uncertain significance rs886060427 GRCh38 Chromosome 5, 174729872: 174729872
41 MSX2 NM_002449.4(MSX2): c.*526T> C single nucleotide variant Uncertain significance rs532200136 GRCh37 Chromosome 5, 174157112: 174157112
42 MSX2 NM_002449.4(MSX2): c.*526T> C single nucleotide variant Uncertain significance rs532200136 GRCh38 Chromosome 5, 174730109: 174730109
43 MSX2 NM_002449.4(MSX2): c.*530A> G single nucleotide variant Uncertain significance rs886060429 GRCh37 Chromosome 5, 174157116: 174157116
44 MSX2 NM_002449.4(MSX2): c.*530A> G single nucleotide variant Uncertain significance rs886060429 GRCh38 Chromosome 5, 174730113: 174730113
45 MSX2 NM_002449.4(MSX2): c.*863A> G single nucleotide variant Uncertain significance rs886060431 GRCh37 Chromosome 5, 174157449: 174157449
46 MSX2 NM_002449.4(MSX2): c.*863A> G single nucleotide variant Uncertain significance rs886060431 GRCh38 Chromosome 5, 174730446: 174730446
47 MSX2 NM_002449.4(MSX2): c.*1006dupA duplication Benign rs397692104 GRCh37 Chromosome 5, 174157592: 174157592
48 MSX2 NM_002449.4(MSX2): c.*1006dupA duplication Benign rs397692104 GRCh38 Chromosome 5, 174730589: 174730589
49 MSX2 NM_002449.4(MSX2): c.*1007T> A single nucleotide variant Likely benign rs74292295 GRCh37 Chromosome 5, 174157593: 174157593
50 MSX2 NM_002449.4(MSX2): c.*1007T> A single nucleotide variant Likely benign rs74292295 GRCh38 Chromosome 5, 174730590: 174730590

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

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