MCID: PRT043
MIFTS: 17

Parietal Foramina with Cleidocranial Dysplasia malady

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

Summaries for Parietal Foramina with Cleidocranial Dysplasia

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MalaCards based summary: Parietal Foramina with Cleidocranial Dysplasia, also known as parietal foramina with cleidocranial dysostosis, is related to cleidocranial dysplasia, and has symptoms including autosomal dominant inheritance, short clavicles and symmetrical, oval parietal bone defects. 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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Sources:
47OMIM, 11diseasecard, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
See all sources

Parietal Foramina with Cleidocranial Dysplasia, Aliases & Descriptions:

Name: Parietal Foramina with Cleidocranial Dysplasia 47 11 49 62
 
Parietal Foramina with Cleidocranial Dysostosis 49


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
parietal foramina with cleidocranial dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 168550
Orphanet49 251290
ICD10 via Orphanet28 Q74.0

Related Diseases for Parietal Foramina with Cleidocranial Dysplasia

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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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Symptoms by clinical synopsis from OMIM:

168550

Clinical features from OMIM:

168550

HPO human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 short clavicles HP:0000894
3 symmetrical, oval parietal bone defects HP:0002695
4 parietal foramina HP:0002697
5 widely patent fontanelles and sutures HP:0004492

Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

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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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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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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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Clinvar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:

7
id Gene Variation Type Significance SNP ID Assembly Location
1MSX2MSX2, 4-BP DUP, NT505duplicationPathogenic

Expression for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

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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
  • Proteins
  • Kits and Assays

Sources for Parietal Foramina with Cleidocranial Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet