PFMCCD
MCID: PRT043
MIFTS: 25

Parietal Foramina with Cleidocranial Dysplasia (PFMCCD) malady

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

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

Aliases & Descriptions for Parietal Foramina with Cleidocranial Dysplasia:

Name: Parietal Foramina with Cleidocranial Dysplasia 54 56 66 13 69
Cleidocranial Dysplasia with Parietal Foramina 66 29
Parietal Foramina with Cleidocranial Dysostosis 56
Pfmccd 66

Characteristics:

Orphanet epidemiological data:

56
parietal foramina with cleidocranial dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
parietal foramina with cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 168550
Orphanet 56 ORPHA251290
ICD10 via Orphanet 34 Q74.0
MedGen 40 C1868597

Summaries for Parietal Foramina with Cleidocranial Dysplasia

UniProtKB/Swiss-Prot : 66 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 leukotriene c4 synthase deficiency, and has symptoms including short clavicles, widely patent fontanelles and sutures and parietal foramina. 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:

id Related Disease Score Top Affiliating Genes
1 cleidocranial dysplasia 10.1
2 leukotriene c4 synthase deficiency 9.9 MSX2 RUNX2
3 dressler's syndrome 9.8 MSX2 RUNX2
4 bone structure disease 9.8 MSX2 RUNX2
5 trichohepatoenteric syndrome 2 9.8 MSX2 RUNX2
6 robinow-sorauf syndrome 9.7 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 by clinical synopsis from OMIM:

168550

Clinical features from OMIM:

168550

Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

32
id Description HPO Frequency HPO Source Accession
1 short clavicles 32 HP:0000894
2 widely patent fontanelles and sutures 32 HP:0004492
3 parietal foramina 32 HP:0002697
4 symmetrical, oval parietal bone defects 32 HP:0002695

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:

id Genetic test Affiliating Genes
1 Parietal Foramina with Cleidocranial Dysplasia 29

Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

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

39
Bone

Publications for Parietal Foramina with Cleidocranial Dysplasia

Articles related to Parietal Foramina with Cleidocranial Dysplasia:

id 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
id 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:

id 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:

id 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 stem cell differentiation GO:0048863 9.26 MSX2 RUNX2
7 embryonic forelimb morphogenesis GO:0035115 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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