MCID: PRT043
MIFTS: 26

Parietal Foramina with Cleidocranial Dysplasia malady

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

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

About this section

Aliases & Descriptions for Parietal Foramina with Cleidocranial Dysplasia:

Name: Parietal Foramina with Cleidocranial Dysplasia 50 52 68 12
Cleidocranial Dysplasia with Parietal Foramina 68 25
 
Parietal Foramina with Cleidocranial Dysostosis 52
Pfmccd 68

Characteristics:

Orphanet epidemiological data:

52
parietal foramina with cleidocranial dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
parietal foramina with cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 168550
Orphanet52 ORPHA251290
ICD10 via Orphanet29 Q74.0
MedGen35 C1868597

Summaries for Parietal Foramina with Cleidocranial Dysplasia

About this section
UniProtKB/Swiss-Prot:68 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 night blindness, congenital stationary , 1b, autosomal recessive, and has symptoms including short clavicles, symmetrical, oval parietal bone defects and parietal foramina. An important gene associated with Parietal Foramina with Cleidocranial Dysplasia is MSX2 (Msh Homeobox 2), and among its related pathways is Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone.

Description from OMIM:50 168550

Related Diseases for Parietal Foramina with Cleidocranial Dysplasia

About this section

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
2night blindness, congenital stationary , 1b, autosomal recessive9.6MSX2, RUNX2
3orbital granuloma9.5MSX2, RUNX2
4craniosynostosis, type 19.5MSX2, RUNX2
5metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly9.4MSX2, RUNX2
6ischemic bone disease9.2MSX2, RUNX2

Graphical network of diseases related to Parietal Foramina with Cleidocranial Dysplasia:



Diseases related to parietal foramina with cleidocranial dysplasia

Symptoms for Parietal Foramina with Cleidocranial Dysplasia

About this section

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

Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Parietal Foramina with Cleidocranial Dysplasia

Genetic Tests for Parietal Foramina with Cleidocranial Dysplasia

About this section

Genetic tests related to Parietal Foramina with Cleidocranial Dysplasia:

id Genetic test Affiliating Genes
1 Parietal Foramina with Cleidocranial Dysplasia25

Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

About this section

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

34
Bone

Animal Models for Parietal Foramina with Cleidocranial Dysplasia or affiliated genes

About this section

Publications for Parietal Foramina with Cleidocranial Dysplasia

About this section

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

About this section

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

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

Pathways for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

About this section

Pathways related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1MSX2, RUNX2

GO Terms for genes affiliated with Parietal Foramina with Cleidocranial Dysplasia

About this section

Biological processes related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1stem cell differentiationGO:00488639.7MSX2, RUNX2
2osteoblast developmentGO:00020769.6MSX2, RUNX2
3chondrocyte developmentGO:00020639.6MSX2, RUNX2
4embryonic forelimb morphogenesisGO:00351159.6MSX2, RUNX2
5BMP signaling pathwayGO:00305099.3MSX2, RUNX2
6osteoblast differentiationGO:00016499.2MSX2, RUNX2
7positive regulation of osteoblast differentiationGO:00456699.2MSX2, RUNX2
8ossificationGO:00015039.1MSX2, RUNX2
9negative regulation of transcription, DNA-templatedGO:00458929.1MSX2, RUNX2
10transcription from RNA polymerase II promoterGO:00063669.0MSX2, RUNX2

Molecular functions related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.1MSX2, RUNX2
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.8MSX2, RUNX2

Sources for Parietal Foramina with Cleidocranial Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet