PFM2
MCID: PRT060
MIFTS: 30

Parietal Foramina 2 (PFM2)

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

Aliases & Classifications for Parietal Foramina 2

MalaCards integrated aliases for Parietal Foramina 2:

Name: Parietal Foramina 2 57 72 29 13 6 70
Pfm2 57 72
Foramina Parietalia Permagna 72
Foramina, Parietal, Type 2 39
Fpp 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some mutation carriers have mild features of frontonasal dysplasia


HPO:

31
parietal foramina 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 609597
OMIM Phenotypic Series 57 PS168500
MedGen 41 C1865044
UMLS 70 C1865044

Summaries for Parietal Foramina 2

OMIM® : 57 Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (168500). (609597) (Updated 05-Apr-2021)

MalaCards based summary : Parietal Foramina 2, also known as pfm2, is related to parietal foramina 1 and parietal foramina. An important gene associated with Parietal Foramina 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include bone, and related phenotypes are depressed nasal bridge and hypertelorism

UniProtKB/Swiss-Prot : 72 Parietal foramina 2: 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. PFM2 is also a clinical feature of Potocki-Shaffer syndrome.

Related Diseases for Parietal Foramina 2

Diseases in the Parietal Foramina family:

Parietal Foramina 1 Parietal Foramina 3
Parietal Foramina 2

Diseases related to Parietal Foramina 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 parietal foramina 1 11.7
2 parietal foramina 11.6
3 potocki-shaffer syndrome 11.4
4 opitz-kaveggia syndrome 10.5
5 saethre-chotzen syndrome 10.3
6 cleft palate, isolated 10.3
7 ptosis 10.3
8 cerebellar hypoplasia 10.3
9 craniosynostosis 10.3
10 hemangioma 10.3
11 warman mulliken hayward syndrome 10.3
12 headache 10.3
13 seizure disorder 10.3
14 submucosal cleft palate 10.3
15 aging 10.0
16 non-alcoholic steatohepatitis 10.0
17 pertussis 10.0
18 hypercholesterolemia, familial, 1 9.9
19 dermatitis, atopic 9.9
20 fatty liver disease, nonalcoholic 1 9.9
21 bone disease 9.9
22 bone resorption disease 9.9
23 non-alcoholic fatty liver disease 9.9
24 cholera 9.9
25 melanoma 9.9
26 syphilis 9.9

Graphical network of the top 20 diseases related to Parietal Foramina 2:



Diseases related to Parietal Foramina 2

Symptoms & Phenotypes for Parietal Foramina 2

Human phenotypes related to Parietal Foramina 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 occasional (7.5%) HP:0005280
2 hypertelorism 31 occasional (7.5%) HP:0000316
3 wide nasal ridge 31 occasional (7.5%) HP:0012811
4 aplasia cutis congenita of scalp 31 HP:0007385
5 encephalocele 31 HP:0002084
6 parietal foramina 31 HP:0002697
7 symmetrical, oval parietal bone defects 31 HP:0002695

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Skull:
symmetrical, oval parietal bone defects
cranium bifidum

Skin Nails Hair Skin:
scalp defect

Skin Nails Hair Hair:
focal alopecia (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)

Head And Neck Nose:
nasal clefting (in some patients)
wide nasal ridge (in some patients)
depressed nasal bridge (in some patients)
broad and elongated columella (in some patients)

Clinical features from OMIM®:

609597 (Updated 05-Apr-2021)

Drugs & Therapeutics for Parietal Foramina 2

Search Clinical Trials , NIH Clinical Center for Parietal Foramina 2

Genetic Tests for Parietal Foramina 2

Genetic tests related to Parietal Foramina 2:

# Genetic test Affiliating Genes
1 Parietal Foramina 2 29 ALX4

Anatomical Context for Parietal Foramina 2

MalaCards organs/tissues related to Parietal Foramina 2:

40
Bone

Publications for Parietal Foramina 2

Articles related to Parietal Foramina 2:

(show all 16)
# Title Authors PMID Year
1
Mild nasal clefting may be predictive for ALX4 heterozygotes. 6 57
24764194 2014
2
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. 57 6
23401352 2013
3
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. 57 6
16319823 2006
4
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 6 57
11137991 2001
5
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 6 57
11106354 2000
6
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. 57
11017806 2000
7
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. 57
9374397 1997
8
PRDM5 promotes the apoptosis of epithelial cells induced by IFN-γ during Crohn's disease. 61
28476379 2017
9
DNA methylation and carcinogenesis of PRDM5 in cervical cancer. 61
20213097 2010
10
Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation. 61
15569759 2004
11
PRDM5 is silenced in human cancers and has growth suppressive activities. 61
15077163 2004
12
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
13
A novel locus for parietal foramina maps to chromosome 4q21-q23. 61
12905082 2003
14
Identification, expression, and functional characterization of MAEBL, a sporozoite and asexual blood stage chimeric erythrocyte-binding protein of Plasmodium falciparum. 61
12165387 2002
15
(+)-(S)-dihydroaeruginoic acid, an inhibitor of Septoria tritici and other phytopathogenic fungi and bacteria, produced by Pseudomonas fluorescens. 61
7798954 1994
16
Normal variants and congenital anomalies in the region of the obelion. 61
183538 1976

Variations for Parietal Foramina 2

ClinVar genetic disease variations for Parietal Foramina 2:

6 (show top 50) (show all 167)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALX4 NM_021926.4(ALX4):c.418C>T (p.Gln140Ter) SNV Pathogenic 5013 rs104894191 GRCh37: 11:44331195-44331195
GRCh38: 11:44309645-44309645
2 ALX4 NM_021926.4(ALX4):c.736C>T (p.Gln246Ter) SNV Pathogenic 5014 rs104894192 GRCh37: 11:44296939-44296939
GRCh38: 11:44275389-44275389
3 ALX4 NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) SNV Pathogenic 5015 rs104894193 GRCh37: 11:44297022-44297022
GRCh38: 11:44275472-44275472
4 ALX4 NM_021926.4(ALX4):c.504del (p.Asp169fs) Deletion Pathogenic 5016 rs587776614 GRCh37: 11:44297171-44297171
GRCh38: 11:44275621-44275621
5 ALX4 NM_021926.4(ALX4):c.815G>C (p.Arg272Pro) SNV Pathogenic 5017 rs104894196 GRCh37: 11:44289135-44289135
GRCh38: 11:44267585-44267585
6 ALX4 NM_021926.4(ALX4):c.620C>A (p.Ser207Ter) SNV Pathogenic 5018 rs104894197 GRCh37: 11:44297055-44297055
GRCh38: 11:44275505-44275505
7 ALX4 NM_021926.4(ALX4):c.385_394del (p.Cys129fs) Deletion Pathogenic 5019 rs387906325 GRCh37: 11:44331219-44331228
GRCh38: 11:44309669-44309678
8 ALX4 NM_021926.4(ALX4):c.646C>G (p.Arg216Gly) SNV Pathogenic 155902 rs587777700 GRCh37: 11:44297029-44297029
GRCh38: 11:44275479-44275479
9 ALX4 NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326fs) Indel Pathogenic 155904 rs587777702 GRCh37: 11:44286655-44286664
GRCh38: 11:44265105-44265114
10 ALX4 NM_021926.4(ALX4):c.569C>T (p.Pro190Leu) SNV Uncertain significance 304708 rs143620051 GRCh37: 11:44297106-44297106
GRCh38: 11:44275556-44275556
11 ALX4 NM_021926.4(ALX4):c.*1157C>A SNV Uncertain significance 304665 rs886048302 GRCh37: 11:44285247-44285247
GRCh38: 11:44263697-44263697
12 ALX4 NM_021926.4(ALX4):c.*855C>A SNV Uncertain significance 304682 rs573850141 GRCh37: 11:44285549-44285549
GRCh38: 11:44263999-44263999
13 ALX4 NM_021926.4(ALX4):c.*3381C>T SNV Uncertain significance 304619 rs531931217 GRCh37: 11:44283023-44283023
GRCh38: 11:44261473-44261473
14 ALX4 NM_021926.4(ALX4):c.*2071C>T SNV Uncertain significance 304645 rs886048295 GRCh37: 11:44284333-44284333
GRCh38: 11:44262783-44262783
15 ALX4 NM_021926.4(ALX4):c.*3112C>T SNV Uncertain significance 304622 rs886048286 GRCh37: 11:44283292-44283292
GRCh38: 11:44261742-44261742
16 ALX4 NM_021926.4(ALX4):c.*3033G>A SNV Uncertain significance 304625 rs886048287 GRCh37: 11:44283371-44283371
GRCh38: 11:44261821-44261821
17 ALX4 NM_021926.4(ALX4):c.*3825G>C SNV Uncertain significance 304611 rs538499078 GRCh37: 11:44282579-44282579
GRCh38: 11:44261029-44261029
18 ALX4 NM_021926.4(ALX4):c.*2991G>A SNV Uncertain significance 304628 rs556132435 GRCh37: 11:44283413-44283413
GRCh38: 11:44261863-44261863
19 ALX4 NM_021926.4(ALX4):c.*1470C>T SNV Uncertain significance 304654 rs886048298 GRCh37: 11:44284934-44284934
GRCh38: 11:44263384-44263384
20 ALX4 NM_021926.4(ALX4):c.*1003C>A SNV Uncertain significance 304671 rs776365654 GRCh37: 11:44285401-44285401
GRCh38: 11:44263851-44263851
21 ALX4 NM_021926.4(ALX4):c.*1710T>C SNV Uncertain significance 304651 rs886048297 GRCh37: 11:44284694-44284694
GRCh38: 11:44263144-44263144
22 ALX4 NM_021926.4(ALX4):c.1163G>A (p.Arg388His) SNV Uncertain significance 304700 rs756876780 GRCh37: 11:44286477-44286477
GRCh38: 11:44264927-44264927
23 ALX4 NM_021926.4(ALX4):c.*2469T>C SNV Uncertain significance 304640 rs886048293 GRCh37: 11:44283935-44283935
GRCh38: 11:44262385-44262385
24 ALX4 NM_021926.4(ALX4):c.*3241C>G SNV Uncertain significance 304620 rs550434819 GRCh37: 11:44283163-44283163
GRCh38: 11:44261613-44261613
25 ALX4 NM_021926.4(ALX4):c.*2489C>T SNV Uncertain significance 304637 rs886048292 GRCh37: 11:44283915-44283915
GRCh38: 11:44262365-44262365
26 ALX4 NM_021926.4(ALX4):c.*2030G>A SNV Uncertain significance 304646 rs886048296 GRCh37: 11:44284374-44284374
GRCh38: 11:44262824-44262824
27 ALX4 NM_021926.4(ALX4):c.561G>T (p.Val187=) SNV Uncertain significance 304709 rs774556630 GRCh37: 11:44297114-44297114
GRCh38: 11:44275564-44275564
28 ALX4 NM_021926.4(ALX4):c.*3016G>A SNV Uncertain significance 304626 rs886048288 GRCh37: 11:44283388-44283388
GRCh38: 11:44261838-44261838
29 ALX4 NM_021926.4(ALX4):c.*1135C>T SNV Uncertain significance 304666 rs886048303 GRCh37: 11:44285269-44285269
GRCh38: 11:44263719-44263719
30 ALX4 NM_021926.4(ALX4):c.*3577C>T SNV Uncertain significance 304615 rs569151215 GRCh37: 11:44282827-44282827
GRCh38: 11:44261277-44261277
31 ALX4 NM_021926.4(ALX4):c.*2883C>A SNV Uncertain significance 304629 rs886048289 GRCh37: 11:44283521-44283521
GRCh38: 11:44261971-44261971
32 ALX4 NM_021926.4(ALX4):c.*1466G>A SNV Uncertain significance 304655 rs552492615 GRCh37: 11:44284938-44284938
GRCh38: 11:44263388-44263388
33 ALX4 NM_021926.4(ALX4):c.*2668T>C SNV Uncertain significance 304635 rs886048291 GRCh37: 11:44283736-44283736
GRCh38: 11:44262186-44262186
34 ALX4 NM_021926.4(ALX4):c.280C>T (p.Pro94Ser) SNV Uncertain significance 304712 rs760627532 GRCh37: 11:44331333-44331333
GRCh38: 11:44309783-44309783
35 ALX4 NM_021926.4(ALX4):c.1206G>A (p.Glu402=) SNV Uncertain significance 304698 rs375068808 GRCh37: 11:44286434-44286434
GRCh38: 11:44264884-44264884
36 ALX4 NM_021926.4(ALX4):c.*1356T>C SNV Uncertain significance 304661 rs886048301 GRCh37: 11:44285048-44285048
GRCh38: 11:44263498-44263498
37 ALX4 NM_021926.4(ALX4):c.*3382G>A SNV Uncertain significance 304618 rs748214374 GRCh37: 11:44283022-44283022
GRCh38: 11:44261472-44261472
38 ALX4 NM_021926.4(ALX4):c.*1444G>C SNV Uncertain significance 304658 rs886048299 GRCh37: 11:44284960-44284960
GRCh38: 11:44263410-44263410
39 ALX4 NM_021926.4(ALX4):c.*2431C>T SNV Uncertain significance 304641 rs886048294 GRCh37: 11:44283973-44283973
GRCh38: 11:44262423-44262423
40 ALX4 NM_021926.4(ALX4):c.*867C>T SNV Uncertain significance 304681 rs746147000 GRCh37: 11:44285537-44285537
GRCh38: 11:44263987-44263987
41 ALX4 NM_021926.4(ALX4):c.*2835A>T SNV Uncertain significance 304630 rs886048290 GRCh37: 11:44283569-44283569
GRCh38: 11:44262019-44262019
42 ALX4 NM_021926.4(ALX4):c.348G>T (p.Pro116=) SNV Uncertain significance 304710 rs769501075 GRCh37: 11:44331265-44331265
GRCh38: 11:44309715-44309715
43 ALX4 NM_021926.4(ALX4):c.*3988T>A SNV Uncertain significance 304610 rs886048283 GRCh37: 11:44282416-44282416
GRCh38: 11:44260866-44260866
44 ALX4 NM_021926.4(ALX4):c.*2478T>C SNV Uncertain significance 304639 rs187228888 GRCh37: 11:44283926-44283926
GRCh38: 11:44262376-44262376
45 ALX4 NM_021926.4(ALX4):c.*1408G>T SNV Uncertain significance 304659 rs886048300 GRCh37: 11:44284996-44284996
GRCh38: 11:44263446-44263446
46 ALX4 NM_021926.4(ALX4):c.*3506T>A SNV Uncertain significance 304616 rs886048285 GRCh37: 11:44282898-44282898
GRCh38: 11:44261348-44261348
47 ALX4 NM_021926.4(ALX4):c.*296C>T SNV Uncertain significance 304690 rs867734583 GRCh37: 11:44286108-44286108
GRCh38: 11:44264558-44264558
48 ALX4 NM_021926.4(ALX4):c.1185C>G (p.Ala395=) SNV Uncertain significance 304699 rs751941183 GRCh37: 11:44286455-44286455
GRCh38: 11:44264905-44264905
49 ALX4 NM_021926.4(ALX4):c.*1463C>G SNV Uncertain significance 304656 rs771684261 GRCh37: 11:44284941-44284941
GRCh38: 11:44263391-44263391
50 ALX4 NM_021926.4(ALX4):c.787C>T (p.Gln263Ter) SNV Uncertain significance 631658 rs1564998718 GRCh37: 11:44289163-44289163
GRCh38: 11:44267613-44267613

UniProtKB/Swiss-Prot genetic disease variations for Parietal Foramina 2:

72
# Symbol AA change Variation ID SNP ID
1 ALX4 p.Arg218Gln VAR_010785 rs104894193
2 ALX4 p.Arg272Pro VAR_010897 rs104894196

Expression for Parietal Foramina 2

Search GEO for disease gene expression data for Parietal Foramina 2.

Pathways for Parietal Foramina 2

GO Terms for Parietal Foramina 2

Sources for Parietal Foramina 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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