MCID: PRT060
MIFTS: 25

Parietal Foramina 2

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

Aliases & Classifications for Parietal Foramina 2

MalaCards integrated aliases for Parietal Foramina 2:

Name: Parietal Foramina 2 57 75 29 13 6 73
Pfm2 57 75
Foramina Parietalia Permagna 75
Foramina, Parietal, Type 2 40
Fpp 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some mutation carriers have mild features of frontonasal dysplasia


HPO:

32
parietal foramina 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Parietal Foramina 2

OMIM : 57 Parietal foramina-2 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)

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

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 parietal foramina 11.9
2 parietal foramina 1 11.6
3 potocki-shaffer syndrome 11.4
4 headache 10.3
5 opitz-kaveggia syndrome 10.3

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



Diseases related to Parietal Foramina 2

Symptoms & Phenotypes for Parietal Foramina 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism (in some patients)

Skeletal Skull:
symmetrical, oval parietal bone defects
cranium bifidum

Skin Nails Hair Hair:
focal alopecia (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)

Skin Nails Hair Skin:
scalp defect


Clinical features from OMIM:

609597

Human phenotypes related to Parietal Foramina 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 encephalocele 32 HP:0002084
3 symmetrical, oval parietal bone defects 32 HP:0002695
4 parietal foramina 32 HP:0002697
5 depressed nasal bridge 32 occasional (7.5%) HP:0005280
6 aplasia cutis congenita of scalp 32 HP:0007385
7 wide nasal ridge 32 occasional (7.5%) HP:0012811

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:

41
Bone

Publications for Parietal Foramina 2

Articles related to Parietal Foramina 2:

# 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
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. ( 10767351 )
2000
6
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). ( 11106354 )
2000
7
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. ( 9714004 )
1998
8
Hereditary enlarged parietal foramina (foramina parietalia permagna). Prenatal diagnosis, evolution and family study. ( 3834376 )
1985

Variations for Parietal Foramina 2

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

75
# Symbol AA change Variation ID SNP ID
1 ALX4 p.Arg218Gln VAR_010785 rs104894193
2 ALX4 p.Arg272Pro VAR_010897 rs104894196

ClinVar genetic disease variations for Parietal Foramina 2:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALX4 NM_021926.3(ALX4): c.736C> T (p.Gln246Ter) single nucleotide variant Pathogenic rs104894192 GRCh38 Chromosome 11, 44275389: 44275389
2 ALX4 NM_021926.3(ALX4): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs104894191 GRCh37 Chromosome 11, 44331195: 44331195
3 ALX4 NM_021926.3(ALX4): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs104894191 GRCh38 Chromosome 11, 44309645: 44309645
4 ALX4 NM_021926.3(ALX4): c.736C> T (p.Gln246Ter) single nucleotide variant Pathogenic rs104894192 GRCh37 Chromosome 11, 44296939: 44296939
5 ALX4 NM_021926.3(ALX4): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs104894193 GRCh37 Chromosome 11, 44297022: 44297022
6 ALX4 NM_021926.3(ALX4): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs104894193 GRCh38 Chromosome 11, 44275472: 44275472
7 ALX4 NM_021926.3(ALX4): c.504delT (p.Asp169Thrfs) deletion Pathogenic rs587776614 GRCh38 Chromosome 11, 44275621: 44275621
8 ALX4 NM_021926.3(ALX4): c.504delT (p.Asp169Thrfs) deletion Pathogenic rs587776614 GRCh37 Chromosome 11, 44297171: 44297171
9 ALX4 NM_021926.3(ALX4): c.815G> C (p.Arg272Pro) single nucleotide variant Pathogenic rs104894196 GRCh37 Chromosome 11, 44289135: 44289135
10 ALX4 NM_021926.3(ALX4): c.815G> C (p.Arg272Pro) single nucleotide variant Pathogenic rs104894196 GRCh38 Chromosome 11, 44267585: 44267585
11 ALX4 NM_021926.3(ALX4): c.620C> A (p.Ser207Ter) single nucleotide variant Pathogenic rs104894197 GRCh37 Chromosome 11, 44297055: 44297055
12 ALX4 NM_021926.3(ALX4): c.620C> A (p.Ser207Ter) single nucleotide variant Pathogenic rs104894197 GRCh38 Chromosome 11, 44275505: 44275505
13 ALX4 NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs) deletion Pathogenic rs387906325 GRCh37 Chromosome 11, 44331219: 44331228
14 ALX4 NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs) deletion Pathogenic rs387906325 GRCh38 Chromosome 11, 44309669: 44309678
15 ALX4 NM_021926.3(ALX4): c.646C> G (p.Arg216Gly) single nucleotide variant Pathogenic rs587777700 GRCh38 Chromosome 11, 44275479: 44275479
16 ALX4 NM_021926.3(ALX4): c.646C> G (p.Arg216Gly) single nucleotide variant Pathogenic rs587777700 GRCh37 Chromosome 11, 44297029: 44297029
17 ALX4 NM_021926.3(ALX4) indel Pathogenic rs587777702 GRCh38 Chromosome 11, 44265105: 44265114
18 ALX4 NM_021926.3(ALX4) indel Pathogenic rs587777702 GRCh37 Chromosome 11, 44286655: 44286664

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

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74 UMLS via Orphanet
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