MCID: PRT060
MIFTS: 20

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 52 24 70 27 12 68
Alx4-Related Parietal Foramina 24
Foramina Parietalia Permagna 70
 
Pfm2 70
Fpp 70

Characteristics:

HPO:

64
parietal foramina 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 609597
MedGen37 C1865044

Summaries for Parietal Foramina 2

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OMIM:52 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.

UniProtKB/Swiss-Prot:70 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 111.5
2potocki-shaffer syndrome11.3
3headache10.3

Symptoms & Phenotypes for Parietal Foramina 2

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Symptoms by clinical synopsis from OMIM:

609597

Clinical features from OMIM:

609597

Human phenotypes related to Parietal Foramina 2:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hypertelorism64 rare (5%) HP:0000316
2 depressed nasal bridge64 rare (5%) HP:0005280
3 wide nasal ridge64 rare (5%) HP:0012811
4 encephalocele64 HP:0002084
5 symmetrical, oval parietal bone defects64 HP:0002695
6 parietal foramina64 HP:0002697
7 aplasia cutis congenita of scalp64 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 227 24 ALX4

Anatomical Context for Parietal Foramina 2

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MalaCards organs/tissues related to Parietal Foramina 2:

36
Bone

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:

70
id Symbol AA change Variation ID SNP ID
1ALX4p.Arg218GlnVAR_010785rs104894193
2ALX4p.Arg272ProVAR_010897rs104894196

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)SNVPathogenicrs587777700GRCh38Chr 11, 44275479: 44275479
2ALX4NM_021926.3(ALX4)indelPathogenicrs587777702GRCh38Chr 11, 44265105: 44265114
3ALX4NM_021926.3(ALX4): c.418C> T (p.Gln140Ter)SNVPathogenicrs104894191GRCh37Chr 11, 44331195: 44331195
4ALX4NM_021926.3(ALX4): c.736C> T (p.Gln246Ter)SNVPathogenicrs104894192GRCh37Chr 11, 44296939: 44296939
5ALX4NM_021926.3(ALX4): c.653G> A (p.Arg218Gln)SNVPathogenicrs104894193GRCh37Chr 11, 44297022: 44297022
6ALX4NM_021926.3(ALX4): c.504delT (p.Asp169Thrfs)deletionPathogenicrs587776614GRCh37Chr 11, 44297171: 44297171
7ALX4NM_021926.3(ALX4): c.815G> C (p.Arg272Pro)SNVPathogenicrs104894196GRCh37Chr 11, 44289135: 44289135
8ALX4NM_021926.3(ALX4): c.620C> A (p.Ser207Ter)SNVPathogenicrs104894197GRCh37Chr 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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Sources for Parietal Foramina 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet