MCID: PRT043
MIFTS: 26

Parietal Foramina with Cleidocranial Dysplasia

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

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

MalaCards integrated aliases for Parietal Foramina with Cleidocranial Dysplasia:

Name: Parietal Foramina with Cleidocranial Dysplasia 53 55 71 28 13 69
Cleidocranial Dysplasia with Parietal Foramina 53 71
Pfmccd 53 71
Parietal Foramina with Clavicular Hypoplasia 55

Characteristics:

Orphanet epidemiological data:

55
parietal foramina with clavicular hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
parietal foramina with cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 168550
Orphanet 55 ORPHA251290
UMLS via Orphanet 70 C1868597
ICD10 via Orphanet 33 Q74.0
MedGen 39 C1868597
UMLS 69 C1868597

Summaries for Parietal Foramina with Cleidocranial Dysplasia

UniProtKB/Swiss-Prot : 71 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 parietal foramina and cleidocranial dysplasia, and has symptoms including macrocephaly, microtia and short clavicles. An important gene associated with Parietal Foramina with Cleidocranial Dysplasia is MSX2 (Msh Homeobox 2), and among its related pathways/superpathways is Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone.

Description from OMIM: 168550

Related Diseases for Parietal Foramina with Cleidocranial Dysplasia

Diseases related to Parietal Foramina with Cleidocranial Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parietal foramina 29.7 MSX2 RUNX2
2 cleidocranial dysplasia 29.7 MSX2 RUNX2
3 bone development disease 9.6 MSX2 RUNX2
4 saethre-chotzen syndrome 9.5 MSX2 RUNX2
5 craniosynostosis 9.4 MSX2 RUNX2

Graphical network of the top 20 diseases related to Parietal Foramina with Cleidocranial Dysplasia:



Diseases related to Parietal Foramina with Cleidocranial Dysplasia

Symptoms & Phenotypes for Parietal Foramina with Cleidocranial Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Skel:
clavicular hypoplasia

Radiology:
symmetrical, oval defects in the parietal bone

Head:
persistent wide fontanel


Clinical features from OMIM:

168550

Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 microtia 31 HP:0008551
3 short clavicles 31 HP:0000894
4 widely patent fontanelles and sutures 31 HP:0004492
5 parietal foramina 31 HP:0002697
6 symmetrical, oval parietal bone defects 31 HP:0002695
7 dermoid cyst 31 HP:0025247

Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

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

Genetic Tests for Parietal Foramina with Cleidocranial Dysplasia

Genetic tests related to Parietal Foramina with Cleidocranial Dysplasia:

# Genetic test Affiliating Genes
1 Parietal Foramina with Cleidocranial Dysplasia 28 MSX2

Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

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

38
Bone

Publications for Parietal Foramina with Cleidocranial Dysplasia

Articles related to Parietal Foramina with Cleidocranial Dysplasia:

# Title Authors Year
1
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. ( 14571277 )
2003

Variations for Parietal Foramina with Cleidocranial Dysplasia

ClinVar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MSX2 MSX2, 4-BP DUP, NT505 duplication Pathogenic

Expression for Parietal Foramina with Cleidocranial Dysplasia

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

Pathways for Parietal Foramina with Cleidocranial Dysplasia

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

# Super pathways Score Top Affiliating Genes
1 10.61 MSX2 RUNX2

GO Terms for Parietal Foramina with Cleidocranial Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.46 MSX2 RUNX2
2 osteoblast differentiation GO:0001649 9.43 MSX2 RUNX2
3 ossification GO:0001503 9.4 MSX2 RUNX2
4 BMP signaling pathway GO:0030509 9.37 MSX2 RUNX2
5 positive regulation of osteoblast differentiation GO:0045669 9.32 MSX2 RUNX2
6 embryonic forelimb morphogenesis GO:0035115 9.26 MSX2 RUNX2
7 stem cell differentiation GO:0048863 9.16 MSX2 RUNX2
8 osteoblast development GO:0002076 8.96 MSX2 RUNX2
9 chondrocyte development GO:0002063 8.62 MSX2 RUNX2

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.62 MSX2 RUNX2

Sources for Parietal Foramina with Cleidocranial Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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