MCID: PRT060
MIFTS: 15

Parietal Foramina 2 malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Parietal Foramina 2

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OMIM:46 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 and has symptoms including autosomal dominant inheritance, encephalocele and symmetrical, oval parietal bone defects. An important gene associated with Parietal Foramina 2 is ALX4 (ALX homeobox 4).

Aliases & Classifications for Parietal Foramina 2

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Parietal Foramina 2, Aliases & Descriptions:

Name: Parietal Foramina 2 21 23 46 61


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Related Diseases for Parietal Foramina 2

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Diseases in the Parietal Foramina 1 family:

Enlarged Parietal Foramina 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:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 encephalocele HP:0002084
3 symmetrical, oval parietal bone defects HP:0002695
4 parietal foramina HP:0002697
5 aplasia cutis congenita of scalp HP:0007385

Drugs & Therapeutics for Parietal Foramina 2

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Drug clinical trials:

Search ClinicalTrials for Parietal Foramina 2

Search 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 221 23 ALX4

Anatomical Context for Parietal Foramina 2

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Animal Models for Parietal Foramina 2 or affiliated genes

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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:

63
id Symbol AA change Variation ID SNP ID
1ALX4p.Arg218GlnVAR_010785
2ALX4p.Arg272ProVAR_010897

Clinvar genetic disease variations for Parietal Foramina 2:

7
id Gene Name Type Significance SNP ID Assembly Location
1ALX4NM_021926.3(ALX4): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs104894191GRCh37Chr 11, 44331195: 44331195
2ALX4NM_021926.3(ALX4): c.736C> T (p.Gln246Ter)single nucleotide variantPathogenicrs104894192GRCh37Chr 11, 44296939: 44296939
3ALX4NM_021926.3(ALX4): c.653G> A (p.Arg218Gln)single nucleotide variantPathogenicrs104894193GRCh37Chr 11, 44297022: 44297022
4ALX4ALX4, 1-BP DEL, 504TdeletionPathogenic
5ALX4NM_021926.3(ALX4): c.815G> C (p.Arg272Pro)single nucleotide variantPathogenicrs104894196GRCh37Chr 11, 44289135: 44289135
6ALX4NM_021926.3(ALX4): c.620C> A (p.Ser207Ter)single nucleotide variantPathogenicrs104894197GRCh37Chr 11, 44297055: 44297055
7ALX4NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs)deletionPathogenicrs387906325GRCh37Chr 11, 44331219: 44331228

Expression for genes affiliated with Parietal Foramina 2

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Expression patterns in normal tissues for genes affiliated with Parietal Foramina 2

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

Pathways for genes affiliated with Parietal Foramina 2

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Compounds for genes affiliated with Parietal Foramina 2

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GO Terms for genes affiliated with Parietal Foramina 2

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Products for genes affiliated with Parietal Foramina 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Parietal Foramina 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet