MCID: PRT059
MIFTS: 33

Parietal Foramina 1 malady

Bone diseases, Fetal diseases categories

Summaries for Parietal Foramina 1

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46OMIM, 32MalaCards
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MalaCards: Parietal Foramina 1, also known as parietal foramina, is related to enlarged parietal foramina and synostosis. An important gene associated with Parietal Foramina 1 is MSX2 (msh homeobox 2). Affiliated tissues include bone, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Description from OMIM:46 168500,609566,609597

Aliases & Classifications for Parietal Foramina 1

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Sources:
48Orphanet, 20GeneTests, 22GTR, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
parietal foramina:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parietal foramina 1 20 22 46 60
parietal foramina 48 60
foramina parietalia permagna 48
hereditary cranium bifidum 48
enlarged parietal foramina 48
catlin marks 48


External Ids:

ICD10 via Orphanet26 Q75.8

Related Diseases for Parietal Foramina 1

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Parietal Foramina 1 family:

Enlarged Parietal Foramina Parietal Foramina 2

Diseases related to Parietal Foramina 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1enlarged parietal foramina31.4ALX4, MSX2
2synostosis30.2ALX4, MSX2
3parietal foramina 210.5
4fg syndrome10.5
5parietal foramina with cleidocranial dysplasia10.5
6saethre-chotzen syndrome10.3
7cleidocranial dysplasia10.3
8craniosynostosis10.3
9dysostosis10.3
10potocki-shaffer syndrome10.3
11cerebritis10.1
12meningocele10.1
13imperforate anus10.1
14osteoporosis10.1
15polydactyly10.0ALX4
16syndactyly10.0MSX2

Graphical network of diseases related to Parietal Foramina 1:



Diseases related to parietal foramina 1

Clinical Features for Parietal Foramina 1

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46OMIM
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Clinical features from OMIM:

168500,609566,609597

Clinical synopsis from OMIM:

168500

Drugs & Therapeutics for Parietal Foramina 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Parietal Foramina 1

Drug clinical trials:

Search ClinicalTrials for Parietal Foramina 1

Search NIH Clinical Center for Parietal Foramina 1

Search CenterWatch for Parietal Foramina 1

Genetic Tests for Parietal Foramina 1

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20GeneTests, 22GTR
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Genetic tests related to Parietal Foramina 1:

id Genetic test Affiliating Genes
1 Parietal Foramina 120 22 MSX2

Anatomical Context for Parietal Foramina 1

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32MalaCards
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MalaCards organs/tissues related to Parietal Foramina 1:

32
Bone

Animal Models for Parietal Foramina 1 or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Parietal Foramina 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1ALX4, MSX2
2MP:00053719.0ALX4, MSX2
3MP:00053828.8ALX4, MSX2

Publications for Parietal Foramina 1

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Genetic Variations for Parietal Foramina 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Parietal Foramina 1:

62
id Symbol AA change Variation ID SNP ID
1MSX2p.Arg172HisVAR_010201
2MSX2p.Leu154ProVAR_010786

Expression for genes affiliated with Parietal Foramina 1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parietal Foramina 1

Search GEO for disease gene expression data for Parietal Foramina 1.

Pathways for genes affiliated with Parietal Foramina 1

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Compounds for genes affiliated with Parietal Foramina 1

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GO Terms for genes affiliated with Parietal Foramina 1

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Sources:
16Gene Ontology
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Cellular components related to Parietal Foramina 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1ALX4, MSX2

Biological processes related to Parietal Foramina 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:0099529.1ALX4, MSX2
2embryonic hindlimb morphogenesisGO:0351169.0ALX4, MSX2
3embryonic forelimb morphogenesisGO:0351158.8ALX4, MSX2

Molecular functions related to Parietal Foramina 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1ALX4, MSX2

Products for genes affiliated with Parietal Foramina 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parietal Foramina 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet