MCID: PRT043
MIFTS: 14

Parietal Foramina with Cleidocranial Dysplasia malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Parietal Foramina with Cleidocranial Dysplasia

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Sources:
48OMIM, 34MalaCards
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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:48 168550

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

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Sources:
48OMIM, 50Orphanet, 27ICD10 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):

50
parietal foramina with cleidocranial dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parietal foramina with cleidocranial dysplasia 48 50
parietal foramina with cleidocranial dysostosis 50


External Ids:

ICD10 via Orphanet27 Q74.0
OMIM48 168550

Related Diseases for Parietal Foramina with Cleidocranial Dysplasia

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18GeneCards, 19GeneDecks
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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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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Parietal Foramina with Cleidocranial Dysplasia

Drug clinical trials:

Search ClinicalTrials for Parietal Foramina with Cleidocranial Dysplasia

Search NIH Clinical Center for Parietal Foramina with Cleidocranial Dysplasia

Search CenterWatch 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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34MalaCards
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MalaCards organs/tissues related to Parietal Foramina with Cleidocranial Dysplasia:

34
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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53PubMed
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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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Sources:
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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Sources:
2BioGPS, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet