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:45 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). Affiliated tissues include bone.

Aliases & Classifications for Parietal Foramina 2

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Parietal Foramina 2, Aliases & Descriptions:

Name: Parietal Foramina 2 45 10 20 22 60


Classifications:

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


External Ids:

OMIM45 609597

Related Diseases for Parietal Foramina 2

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Diseases in the Parietal Foramina 1 family:

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 220 22 ALX4

Anatomical Context for Parietal Foramina 2

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MalaCards organs/tissues related to Parietal Foramina 2:

31
Bone

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:

62
id Symbol AA change Variation ID SNP ID
1ALX4p.Arg218GlnVAR_010785
2ALX4p.Arg272ProVAR_010897

Clinvar genetic disease variations for Parietal Foramina 2:

6
id Gene Variation 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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet