MCID: PRT043
MIFTS: 17

Parietal Foramina with Cleidocranial Dysplasia malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

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Aliases & Descriptions for Parietal Foramina with Cleidocranial Dysplasia:

Name: Parietal Foramina with Cleidocranial Dysplasia 49 11 51 67 65
Cleidocranial Dysplasia with Parietal Foramina 67 24
 
Parietal Foramina with Cleidocranial Dysostosis 51
Pfmccd 67

Characteristics:

Orphanet epidemiological data:

51
parietal foramina with cleidocranial dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
parietal foramina with cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 168550
Orphanet51 251290
ICD10 via Orphanet28 Q74.0
MedGen34 C1868597
UMLS65 C1868597

Summaries for Parietal Foramina with Cleidocranial Dysplasia

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UniProtKB/Swiss-Prot:67 Parietal foramina with cleidocranial dysplasia: Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.

MalaCards based summary: Parietal Foramina with Cleidocranial Dysplasia, also known as cleidocranial dysplasia with parietal foramina, is related to cleidocranial dysplasia, and has symptoms including widely patent fontanelles and sutures, parietal foramina 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:49 168550

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cleidocranial dysplasia10.2

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 widely patent fontanelles and sutures HP:0004492
2 parietal foramina HP:0002697
3 symmetrical, oval parietal bone defects HP:0002695
4 short clavicles HP:0000894

Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, 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:

5
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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GO Terms for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

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Sources for Parietal Foramina with Cleidocranial Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet