MCID: PRT043
MIFTS: 14

Parietal Foramina with Cleidocranial Dysplasia malady

Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Parietal Foramina with Cleidocranial Dysplasia

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47OMIM, 33MalaCards
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MalaCards: Parietal Foramina with Cleidocranial Dysplasia, also known as parietal foramina with cleidocranial dysostosis, is related to cleidocranial dysplasia. An important gene associated with Parietal Foramina with Cleidocranial Dysplasia is MSX2 (msh homeobox 2). Affiliated tissues include bone.

Description from OMIM:47 168550

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

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47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
parietal foramina with cleidocranial dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parietal foramina with cleidocranial dysplasia 47 49
parietal foramina with cleidocranial dysostosis 49


External Ids:

ICD10 via Orphanet26 Q74.0
OMIM47 168550

Related Diseases for Parietal Foramina with Cleidocranial Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Parietal Foramina with Cleidocranial Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cleidocranial dysplasia10.5

Symptoms for Parietal Foramina with Cleidocranial Dysplasia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

168550

Clinical features from OMIM:

168550

Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Parietal Foramina with Cleidocranial Dysplasia

Search NIH Clinical Center for Parietal Foramina with Cleidocranial Dysplasia

Genetic Tests for Parietal Foramina with Cleidocranial Dysplasia

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Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Parietal Foramina with Cleidocranial Dysplasia:

33
Bone

Animal Models for Parietal Foramina with Cleidocranial Dysplasia or affiliated genes

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Publications for Parietal Foramina with Cleidocranial Dysplasia

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52PubMed
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Articles related to Parietal Foramina with Cleidocranial Dysplasia:

idTitleAuthorsYear
1
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (14571277)
2003

Variations for Parietal Foramina with Cleidocranial Dysplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1MSX2MSX2, 4-BP DUP, NT505duplicationPathogenic/card/parietal_foramina_with_cleidocranial_dysplasia

Expression for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

Search GEO for disease gene expression data for Parietal Foramina with Cleidocranial Dysplasia.

Pathways for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

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Compounds for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

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GO Terms for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

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Products for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parietal Foramina with Cleidocranial Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet