MCID: PRT060
MIFTS: 22

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 54 24 71 29 13 69
Alx4-Related Parietal Foramina 24
Foramina Parietalia Permagna 71
Pfm2 71
Fpp 71

Characteristics:

OMIM:

54
Miscellaneous:
some mutation carriers have mild features of frontonasal dysplasia

Inheritance:
autosomal dominant


HPO:

32
parietal foramina 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Parietal Foramina 2

OMIM : 54
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 alx4-related parietal foramina, is related to parietal foramina and potocki-shaffer syndrome, and has symptoms including depressed nasal bridge, hypertelorism and encephalocele. An important gene associated with Parietal Foramina 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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 3 Parietal Foramina 1
Parietal Foramina 2

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

id Related Disease Score Top Affiliating Genes
1 parietal foramina 11.8
2 potocki-shaffer syndrome 11.3
3 parietal foramina 1 11.3
4 headache 10.2

Symptoms & Phenotypes for Parietal Foramina 2

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal- Skull:
cranium bifidum
symmetrical, oval parietal bone defects

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

Skin Nails & Hair- Skin:
scalp defect

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


Clinical features from OMIM:

609597

Human phenotypes related to Parietal Foramina 2:

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

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:

id Genetic test Affiliating Genes
1 Parietal Foramina 2 29 24 ALX4

Anatomical Context for Parietal Foramina 2

MalaCards organs/tissues related to Parietal Foramina 2:

39
Bone

Publications for Parietal Foramina 2

Variations for Parietal Foramina 2

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 ALX4 NM_021926.3(ALX4): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs104894191 GRCh37 Chromosome 11, 44331195: 44331195
2 ALX4 NM_021926.3(ALX4): c.736C> T (p.Gln246Ter) single nucleotide variant Pathogenic rs104894192 GRCh37 Chromosome 11, 44296939: 44296939
3 ALX4 NM_021926.3(ALX4): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs104894193 GRCh37 Chromosome 11, 44297022: 44297022
4 ALX4 NM_021926.3(ALX4): c.504delT (p.Asp169Thrfs) deletion Pathogenic rs587776614 GRCh38 Chromosome 11, 44275621: 44275621
5 ALX4 NM_021926.3(ALX4): c.815G> C (p.Arg272Pro) single nucleotide variant Pathogenic rs104894196 GRCh37 Chromosome 11, 44289135: 44289135
6 ALX4 NM_021926.3(ALX4): c.620C> A (p.Ser207Ter) single nucleotide variant Pathogenic rs104894197 GRCh37 Chromosome 11, 44297055: 44297055
7 ALX4 NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs) deletion Pathogenic rs387906325 GRCh37 Chromosome 11, 44331219: 44331228
8 ALX4 NM_021926.3(ALX4): c.646C> G (p.Arg216Gly) single nucleotide variant Pathogenic rs587777700 GRCh38 Chromosome 11, 44275479: 44275479
9 ALX4 NM_021926.3(ALX4) indel Pathogenic rs587777702 GRCh38 Chromosome 11, 44265105: 44265114

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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