MCID: PRT043
MIFTS: 25

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 52 54 70 12 68
Cleidocranial Dysplasia with Parietal Foramina 70 27
 
Parietal Foramina with Cleidocranial Dysostosis 54
Pfmccd 70

Characteristics:

Orphanet epidemiological data:

54
parietal foramina with cleidocranial dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
parietal foramina with cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 168550
Orphanet54 ORPHA251290
ICD10 via Orphanet31 Q74.0
MedGen37 C1868597

Summaries for Parietal Foramina with Cleidocranial Dysplasia

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UniProtKB/Swiss-Prot:70 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:52 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 dysplasia10.1
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 brachydactyly9.5MSX2, RUNX2
6ischemic bone disease9.3MSX2, RUNX2

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



Diseases related to parietal foramina with cleidocranial dysplasia

Symptoms & Phenotypes for Parietal Foramina with Cleidocranial Dysplasia

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Symptoms by clinical synopsis from OMIM:

168550

Clinical features from OMIM:

168550

Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

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id Description HPO Frequency HPO Source Accession
1 short clavicles64 HP:0000894
2 symmetrical, oval parietal bone defects64 HP:0002695
3 parietal foramina64 HP:0002697
4 widely patent fontanelles and sutures64 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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Genetic tests related to Parietal Foramina with Cleidocranial Dysplasia:

id Genetic test Affiliating Genes
1 Parietal Foramina with Cleidocranial Dysplasia27

Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

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

36
Bone

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, NT505duplicationPathogenicChr na, -1: -1

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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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

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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
1BMP signaling pathwayGO:00305099.9MSX2, RUNX2
2chondrocyte developmentGO:00020639.9MSX2, RUNX2
3embryonic forelimb morphogenesisGO:00351159.9MSX2, RUNX2
4negative regulation of transcription, DNA-templatedGO:00458929.8MSX2, RUNX2
5ossificationGO:00015039.8MSX2, RUNX2
6osteoblast developmentGO:00020769.8MSX2, RUNX2
7osteoblast differentiationGO:00016499.8MSX2, RUNX2
8positive regulation of osteoblast differentiationGO:00456699.8MSX2, RUNX2
9stem cell differentiationGO:00488639.8MSX2, RUNX2
10transcription from RNA polymerase II promoterGO:00063669.1MSX2, 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:00009789.7MSX2, RUNX2
2transcription regulatory region DNA bindingGO:00442129.1MSX2, RUNX2

Sources for Parietal Foramina with Cleidocranial Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet