MCID: PRT043
MIFTS: 25

Parietal Foramina with Cleidocranial Dysplasia malady

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

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

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Sources:
49OMIM, 11diseasecard, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Parietal Foramina with Cleidocranial Dysplasia:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 168550
Orphanet51 251290
ICD10 via Orphanet28 Q74.0
MedGen34 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 parietal foramina with cleidocranial dysostosis, is related to cleidocranial dysplasia and parietal foramina with 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, and related mouse phenotype limbs/digits/tail.

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 dysplasia30.4MSX2, RUNX2
2parietal foramina with cleidocranial dysplasia9.8MSX2, RUNX2
3diaphragmatic eventration9.8MSX2, RUNX2
4bone ewing's sarcoma9.8MSX2, RUNX2
5saethre-chotzen syndrome9.7MSX2, 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

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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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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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MGI Mouse Phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1MSX2, RUNX2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1osteoblast developmentGO:00020769.8MSX2, RUNX2
2embryonic forelimb morphogenesisGO:00351159.7MSX2, RUNX2
3stem cell differentiationGO:00488639.7MSX2, RUNX2
4chondrocyte developmentGO:00020639.5MSX2, RUNX2
5positive regulation of osteoblast differentiationGO:00456699.5MSX2, RUNX2
6osteoblast differentiationGO:00016499.3MSX2, RUNX2
7BMP signaling pathwayGO:00305099.2MSX2, RUNX2
8transcription from RNA polymerase II promoterGO:00063669.1MSX2, RUNX2
9negative regulation of transcription, DNA-templatedGO:00458929.0MSX2, RUNX2
10ossificationGO:00015038.8MSX2, RUNX2

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.1MSX2, RUNX2
2transcription factor bindingGO:00081349.1MSX2, RUNX2
3transcription regulatory region DNA bindingGO:00442129.0MSX2, RUNX2

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