PFM1
MCID: PRT059
MIFTS: 34

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 57 72 29 13 6 70
Cranium Bifidum, Hereditary 57 72 6
Parietal Foramina, Symmetric 57 72
Foramina Parietalia Permagna 57 72
Cranium Bifidum Occultum 57 72
Catlin Marks 57 72
Pfm1 57 72
Pfm 57 72
Fpp 57 72
Foramina Parietalia Permagna; Fpp 57
Enlarged Parietal Foramina 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 168500
OMIM Phenotypic Series 57 PS168500
MeSH 44 D004677
UMLS 70 C1868599

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) (Updated 20-May-2021)

MalaCards based summary : Parietal Foramina 1, also known as cranium bifidum, hereditary, 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, liver and spinal cord, and related phenotypes are cleft palate and cleft upper lip

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 1 11.6
2 potocki-shaffer syndrome 11.4
3 frontofacionasal dysplasia 11.4
4 acromelic frontonasal dysostosis 11.4
5 frontonasal dysplasia 2 11.4
6 frontonasal dysplasia 3 11.4
7 parietal foramina with cleidocranial dysplasia 11.2
8 parietal foramina 11.0
9 parietal foramina 2 11.0
10 opitz-kaveggia syndrome 10.5
11 hypertelorism 10.4
12 saethre-chotzen syndrome 10.3
13 cleft palate, isolated 10.3
14 ptosis 10.3
15 cerebellar hypoplasia 10.3
16 craniosynostosis 10.3
17 hemangioma 10.3
18 warman mulliken hayward syndrome 10.3
19 headache 10.3
20 seizure disorder 10.3
21 submucosal cleft palate 10.3
22 alar cleft, isolated 10.3
23 synostosis 10.3
24 encephalocele 10.3
25 occipital encephalocele 10.3
26 dysostosis 10.3
27 hair whorl 10.2
28 lipomatosis, multiple 10.1
29 hemifacial microsomia 10.1
30 osteoporosis 10.1
31 bone mineral density quantitative trait locus 8 10.1
32 bone mineral density quantitative trait locus 15 10.1
33 benign teratoma 10.1
34 rapidly involuting congenital hemangioma 10.1
35 pleomorphic lipoma 10.1
36 microphthalmia 10.1
37 encephalomalacia 10.1
38 cystic teratoma 10.1
39 mature teratoma 10.1
40 craniofacial microsomia 10.1
41 osteochondroma 10.1
42 microtia 10.1
43 aplasia cutis congenita, nonsyndromic 10.1
44 cleft lip 10.1
45 cleft lip/palate 10.1
46 hemophilia 10.0
47 aging 10.0
48 non-alcoholic steatohepatitis 10.0
49 pertussis 10.0
50 factor viii deficiency 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

Human phenotypes related to Parietal Foramina 1:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 MSX2

Anatomical Context for Parietal Foramina 1

MalaCards organs/tissues related to Parietal Foramina 1:

40
Bone, Liver, Spinal Cord

Publications for Parietal Foramina 1

Articles related to Parietal Foramina 1:

(show all 28)
# Title Authors PMID Year
1
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). 57 6
16222674 2005
2
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. 57 6
10742103 2000
3
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. 6
28808027 2017
4
Survey of variation in human transcription factors reveals prevalent DNA binding changes. 6
27013732 2016
5
Boston type craniosynostosis: report of a second mutation in MSX2. 6
23949913 2013
6
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. 6
23918290 2013
7
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. 6
18786927 2008
8
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. 57
16319823 2006
9
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. 6
10767351 2000
10
Syndromic foramina parietalia permagna. 57
9714003 1998
11
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. 57
9714004 1998
12
Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA. 6
9256341 1997
13
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. 6
8106171 1993
14
Hereditary cranium bifidum and symmetric parietal foramina are the same entity. 57
2185629 1990
15
Aboriginal trephination: case from southern New England? 57
5479628 1970
16
Evolution of persistently enlarged parietal foramina. 57
5481147 1970
17
Enlarged parietal foramina. 57
5227396 1967
18
Seizures associated with the Catlin mark. 57
13756473 1961
19
[Familial occurrance of foramina parietalia permagna]. 57
14418379 1959
20
Congenital hereditary cranium bifidum occultum frontalis with a review of anatomical variations in lower medsagittal region of frontal bones. 57
13064405 1953
21
Steered molecular dynamics simulations reveal critical residues for (un)binding of substrates, inhibitors and a product to the malarial M1 aminopeptidase. 61
30379805 2018
22
Short- and long-term exposure to low levels of pesticide and flavonoid mixtures modify endogenous antioxidants in tissues of rats. 61
19365751 2009
23
CHR11, a chromatin-remodeling factor essential for nuclear proliferation during female gametogenesis in Arabidopsis thaliana. 61
16286646 2005
24
A novel locus for parietal foramina maps to chromosome 4q21-q23. 61
12905082 2003
25
Analysis of Host Species Specificity of Magnaporthe grisea Toward Foxtail Millet Using a Genetic Cross Between Isolates from Wheat and Foxtail Millet. 61
18944155 2003
26
PFM1 (PRDM4), a new member of the PR-domain family, maps to a tumor suppressor locus on human chromosome 12q23-q24.1. 61
10552934 1999
27
Delay lines and amplitude selectivity are created in subthalamic auditory nuclei: the brachium of the inferior colliculus of the mustached bat. 61
8389837 1993
28
Combination-sensitive neurons in the medial geniculate body of the mustached bat: encoding of target range information. 61
1651998 1991

Variations for Parietal Foramina 1

ClinVar genetic disease variations for Parietal Foramina 1:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSX2 MSX2, 6-BP DEL, NT475 Deletion Pathogenic 16962 GRCh37:
GRCh38:
2 MSX2 NM_002449.5(MSX2):c.515G>A (p.Arg172His) SNV Pathogenic 16963 rs104893896 GRCh37: 5:174156297-174156297
GRCh38: 5:174729294-174729294
3 MSX2 nsv513767 Deletion Pathogenic 16964 GRCh37:
GRCh38:
4 MSX2 NM_002449.5(MSX2):c.265_266delinsTA (p.Ala89Ter) Indel Pathogenic 16965 rs121912971 GRCh37: 5:174151927-174151928
GRCh38: 5:174724924-174724925
5 MSX2 NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer) Deletion Pathogenic 16966 rs121912972 GRCh37: 5:174152006-174152006
GRCh38: 5:174725003-174725003
6 MSX2 NM_002449.5(MSX2):c.548_555del (p.Glu183fs) Deletion Pathogenic 16968 rs1561643060 GRCh37: 5:174156327-174156334
GRCh38: 5:174729324-174729331
7 MSX2 NM_002449.5(MSX2):c.443C>A (p.Pro148His) SNV Pathogenic 16961 rs104893895 GRCh37: 5:174156225-174156225
GRCh38: 5:174729222-174729222
8 MSX2 NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) SNV Likely pathogenic 219192 rs104893895 GRCh37: 5:174156225-174156225
GRCh38: 5:174729222-174729222
9 MSX2 NM_002449.5(MSX2):c.-50C>T SNV Uncertain significance 352834 rs371076863 GRCh37: 5:174151613-174151613
GRCh38: 5:174724610-174724610
10 MSX2 NM_002449.5(MSX2):c.*144C>T SNV Uncertain significance 352841 rs530005338 GRCh37: 5:174156730-174156730
GRCh38: 5:174729727-174729727
11 MSX2 NM_002449.5(MSX2):c.*1096A>G SNV Uncertain significance 352861 rs530984915 GRCh37: 5:174157682-174157682
GRCh38: 5:174730679-174730679
12 MSX2 NM_002449.5(MSX2):c.*102C>T SNV Uncertain significance 352840 rs886060426 GRCh37: 5:174156688-174156688
GRCh38: 5:174729685-174729685
13 MSX2 NM_002449.5(MSX2):c.*363A>G SNV Uncertain significance 352847 rs376258231 GRCh37: 5:174156949-174156949
GRCh38: 5:174729946-174729946
14 MSX2 NM_002449.5(MSX2):c.*526T>C SNV Uncertain significance 352850 rs532200136 GRCh37: 5:174157112-174157112
GRCh38: 5:174730109-174730109
15 MSX2 NM_002449.5(MSX2):c.*1312A>G SNV Uncertain significance 352866 rs886060434 GRCh37: 5:174157898-174157898
GRCh38: 5:174730895-174730895
16 MSX2 NM_002449.5(MSX2):c.635C>G (p.Ala212Gly) SNV Uncertain significance 352837 rs775062909 GRCh37: 5:174156417-174156417
GRCh38: 5:174729414-174729414
17 MSX2 NM_002449.5(MSX2):c.*106C>T SNV Uncertain significance 904118 GRCh37: 5:174156692-174156692
GRCh38: 5:174729689-174729689
18 MSX2 NM_002449.5(MSX2):c.*126T>C SNV Uncertain significance 904119 GRCh37: 5:174156712-174156712
GRCh38: 5:174729709-174729709
19 MSX2 NM_002449.5(MSX2):c.*512G>T SNV Uncertain significance 904177 GRCh37: 5:174157098-174157098
GRCh38: 5:174730095-174730095
20 MSX2 NM_002449.5(MSX2):c.*516A>G SNV Uncertain significance 904178 GRCh37: 5:174157102-174157102
GRCh38: 5:174730099-174730099
21 MSX2 NM_002449.5(MSX2):c.*1064A>G SNV Uncertain significance 904233 GRCh37: 5:174157650-174157650
GRCh38: 5:174730647-174730647
22 MSX2 NM_002449.5(MSX2):c.122A>T (p.Lys41Met) SNV Uncertain significance 904829 GRCh37: 5:174151784-174151784
GRCh38: 5:174724781-174724781
23 MSX2 NM_002449.5(MSX2):c.286G>T (p.Val96Leu) SNV Uncertain significance 904830 GRCh37: 5:174151948-174151948
GRCh38: 5:174724945-174724945
24 MSX2 NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) SNV Uncertain significance 904831 GRCh37: 5:174151966-174151966
GRCh38: 5:174724963-174724963
25 MSX2 NM_002449.5(MSX2):c.*183G>T SNV Uncertain significance 904896 GRCh37: 5:174156769-174156769
GRCh38: 5:174729766-174729766
26 MSX2 NM_002449.5(MSX2):c.*601C>G SNV Uncertain significance 904958 GRCh37: 5:174157187-174157187
GRCh38: 5:174730184-174730184
27 MSX2 NM_002449.5(MSX2):c.*1161C>T SNV Uncertain significance 905025 GRCh37: 5:174157747-174157747
GRCh38: 5:174730744-174730744
28 MSX2 NM_002449.5(MSX2):c.*366T>G SNV Uncertain significance 906498 GRCh37: 5:174156952-174156952
GRCh38: 5:174729949-174729949
29 MSX2 NM_002449.5(MSX2):c.*644C>T SNV Uncertain significance 906549 GRCh37: 5:174157230-174157230
GRCh38: 5:174730227-174730227
30 MSX2 NM_002449.5(MSX2):c.*1189G>A SNV Uncertain significance 906609 GRCh37: 5:174157775-174157775
GRCh38: 5:174730772-174730772
31 MSX2 NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) SNV Uncertain significance 907440 GRCh37: 5:174156533-174156533
GRCh38: 5:174729530-174729530
32 MSX2 NM_002449.5(MSX2):c.*465C>T SNV Uncertain significance 907504 GRCh37: 5:174157051-174157051
GRCh38: 5:174730048-174730048
33 MSX2 NM_002449.5(MSX2):c.*946T>G SNV Uncertain significance 352857 rs886060432 GRCh37: 5:174157532-174157532
GRCh38: 5:174730529-174730529
34 MSX2 NM_002449.5(MSX2):c.*289A>G SNV Uncertain significance 352844 rs886060427 GRCh37: 5:174156875-174156875
GRCh38: 5:174729872-174729872
35 MSX2 NM_002449.5(MSX2):c.*46G>T SNV Uncertain significance 352839 rs375964205 GRCh37: 5:174156632-174156632
GRCh38: 5:174729629-174729629
36 ALX4 NM_021926.4(ALX4):c.*1346del Deletion Uncertain significance 304662 rs544187857 GRCh37: 11:44285058-44285058
GRCh38: 11:44263508-44263508
37 ALX4 NM_021926.4(ALX4):c.-81C>T SNV Uncertain significance 304718 rs886048305 GRCh37: 11:44331693-44331693
GRCh38: 11:44310143-44310143
38 ALX4 NM_021926.4(ALX4):c.*3755_*3760del Deletion Uncertain significance 304613 rs886048284 GRCh37: 11:44282644-44282649
GRCh38: 11:44261094-44261099
39 MSX2 NM_002449.5(MSX2):c.698C>T (p.Ala233Val) SNV Uncertain significance 536455 rs138053303 GRCh37: 5:174156480-174156480
GRCh38: 5:174729477-174729477
40 MSX2 NM_002449.5(MSX2):c.442C>T (p.Pro148Ser) SNV Uncertain significance 639933 rs1581520079 GRCh37: 5:174156224-174156224
GRCh38: 5:174729221-174729221
41 MSX2 NM_002449.5(MSX2):c.255C>T (p.Gly85=) SNV Uncertain significance 649848 rs367614252 GRCh37: 5:174151917-174151917
GRCh38: 5:174724914-174724914
42 MSX2 NM_002449.5(MSX2):c.745A>G (p.Ile249Val) SNV Uncertain significance 1002419 GRCh37: 5:174156527-174156527
GRCh38: 5:174729524-174729524
43 MSX2 NM_002449.5(MSX2):c.*647C>T SNV Uncertain significance 352853 rs751312423 GRCh37: 5:174157233-174157233
GRCh38: 5:174730230-174730230
44 MSX2 NM_002449.5(MSX2):c.*306G>T SNV Uncertain significance 352845 rs886060428 GRCh37: 5:174156892-174156892
GRCh38: 5:174729889-174729889
45 MSX2 NM_002449.5(MSX2):c.*863A>G SNV Uncertain significance 352856 rs886060431 GRCh37: 5:174157449-174157449
GRCh38: 5:174730446-174730446
46 MSX2 NM_002449.5(MSX2):c.*530A>G SNV Uncertain significance 352851 rs886060429 GRCh37: 5:174157116-174157116
GRCh38: 5:174730113-174730113
47 MSX2 NM_002449.5(MSX2):c.*601C>T SNV Uncertain significance 352852 rs886060430 GRCh37: 5:174157187-174157187
GRCh38: 5:174730184-174730184
48 MSX2 NM_002449.5(MSX2):c.*1233T>C SNV Uncertain significance 907630 GRCh37: 5:174157819-174157819
GRCh38: 5:174730816-174730816
49 MSX2 NM_002449.5(MSX2):c.*1206T>C SNV Likely benign 907629 GRCh37: 5:174157792-174157792
GRCh38: 5:174730789-174730789
50 MSX2 NM_002449.5(MSX2):c.-42C>T SNV Likely benign 352835 rs758437365 GRCh37: 5:174151621-174151621
GRCh38: 5:174724618-174724618

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

72
# Symbol AA change Variation ID SNP ID
1 MSX2 p.Arg172His VAR_010201 rs104893896
2 MSX2 p.Leu154Pro VAR_010786

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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