MCID: PRT060
MIFTS: 26

Parietal Foramina 2 malady

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

Aliases & Classifications for Parietal Foramina 2

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Aliases & Descriptions for Parietal Foramina 2:

Name: Parietal Foramina 2 49 11 22 67 24 65
Alx4-Related Parietal Foramina 22
Foramina Parietalia Permagna 67
 
Pfm2 67
Fpp 67

Characteristics:

HPO:

61
parietal foramina 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 609597
MedGen34 C1865044
UMLS65 C1865044

Summaries for Parietal Foramina 2

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OMIM:49 Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some... (609597) more...

MalaCards based summary: Parietal Foramina 2, also known as alx4-related parietal foramina, is related to parietal foramina 1 and potocki-shaffer syndrome, and has symptoms including hypertelorism, depressed nasal bridge and wide nasal ridge. An important gene associated with Parietal Foramina 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

UniProtKB/Swiss-Prot:67 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

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Diseases in the Parietal Foramina 1 family:

parietal foramina 2

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

idRelated DiseaseScoreTop Affiliating Genes
1parietal foramina 111.7
2potocki-shaffer syndrome10.4
3headache10.4
4craniosynostosis 59.6ALX4, MSX2
5cardiomyopathy, hypertrophic, 49.6ALX4, MSX2
6frontonasal dysplasia 29.5ALX4, MSX2
7critical limb ischemia9.5ALX4, MSX2
8parietal foramina with cleidocranial dysplasia9.4ALX4, MSX2
9autosomal recessive disease9.3ALX4, MSX2

Graphical network of diseases related to Parietal Foramina 2:



Diseases related to parietal foramina 2

Symptoms for Parietal Foramina 2

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Symptoms by clinical synopsis from OMIM:

609597

Clinical features from OMIM:

609597

HPO human phenotypes related to Parietal Foramina 2:

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

Drugs & Therapeutics for Parietal Foramina 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Parietal Foramina 2

Genetic Tests for Parietal Foramina 2

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Genetic tests related to Parietal Foramina 2:

id Genetic test Affiliating Genes
1 Parietal Foramina 222 ALX4

Anatomical Context for Parietal Foramina 2

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MalaCards organs/tissues related to Parietal Foramina 2:

33
Bone

Animal Models for Parietal Foramina 2 or affiliated genes

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MGI Mouse Phenotypes related to Parietal Foramina 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1ALX4, MSX2
2MP:00053719.0ALX4, MSX2

Publications for Parietal Foramina 2

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Variations for Parietal Foramina 2

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

67
id Symbol AA change Variation ID SNP ID
1ALX4p.Arg218GlnVAR_010785
2ALX4p.Arg272ProVAR_010897

Clinvar genetic disease variations for Parietal Foramina 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALX4NM_021926.3(ALX4): c.646C> G (p.Arg216Gly)single nucleotide variantPathogenicrs587777700GRCh38Chr 11, 44275479: 44275479
2ALX4NM_021926.3(ALX4)indelPathogenicrs587777702GRCh38Chr 11, 44265105: 44265114
3ALX4NM_021926.3(ALX4): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs104894191GRCh37Chr 11, 44331195: 44331195
4ALX4NM_021926.3(ALX4): c.736C> T (p.Gln246Ter)single nucleotide variantPathogenicrs104894192GRCh37Chr 11, 44296939: 44296939
5ALX4NM_021926.3(ALX4): c.653G> A (p.Arg218Gln)single nucleotide variantPathogenicrs104894193GRCh37Chr 11, 44297022: 44297022
6ALX4NM_021926.3(ALX4): c.504delT (p.Asp169Thrfs)deletionPathogenicrs587776614GRCh38Chr 11, 44275621: 44275621
7ALX4NM_021926.3(ALX4): c.815G> C (p.Arg272Pro)single nucleotide variantPathogenicrs104894196GRCh37Chr 11, 44289135: 44289135
8ALX4NM_021926.3(ALX4): c.620C> A (p.Ser207Ter)single nucleotide variantPathogenicrs104894197GRCh37Chr 11, 44297055: 44297055
9ALX4NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs)deletionPathogenicrs387906325GRCh37Chr 11, 44331219: 44331228

Expression for genes affiliated with Parietal Foramina 2

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

Pathways for genes affiliated with Parietal Foramina 2

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GO Terms for genes affiliated with Parietal Foramina 2

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Biological processes related to Parietal Foramina 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1embryonic forelimb morphogenesisGO:00351159.1ALX4, MSX2

Sources for Parietal Foramina 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet