PFMCCD
MCID: PRT043
MIFTS: 25

Parietal Foramina with Cleidocranial Dysplasia (PFMCCD)

Categories: Bone diseases, Fetal diseases, Genetic 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 57 59 74 29 13 6 72
Cleidocranial Dysplasia with Parietal Foramina 57 74
Pfmccd 57 74
Foramina, Parietal, with Cleidocranial Dysplasia 40
Parietal Foramina with Clavicular Hypoplasia 59

Characteristics:

Orphanet epidemiological data:

59
parietal foramina with clavicular hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
parietal foramina with cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 168550
ICD10 via Orphanet 34 Q74.0
UMLS via Orphanet 73 C1868597
Orphanet 59 ORPHA251290
MedGen 42 C1868597
UMLS 72 C1868597

Summaries for Parietal Foramina with Cleidocranial Dysplasia

UniProtKB/Swiss-Prot : 74 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. An important gene associated with Parietal Foramina with Cleidocranial Dysplasia is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and microtia

More information 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 29.8 RUNX2 MSX2
2 cleidocranial dysplasia 29.7 RUNX2 MSX2
3 cleidocranial dysplasia spectrum disorder 10.3
4 bone development disease 9.4 RUNX2 MSX2
5 saethre-chotzen syndrome 9.2 RUNX2 MSX2

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

Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 microtia 32 HP:0008551
3 short clavicles 32 HP:0000894
4 widely patent fontanelles and sutures 32 HP:0004492
5 dermoid cyst 32 HP:0025247
6 parietal foramina 32 HP:0002697
7 symmetrical, oval parietal bone defects 32 HP:0002695

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
persistent wide fontanel

Skeletal Skull:
symmetrical, oval defects in the parietal bone

Chest Ribs Sternum Clavicles And Scapulae:
clavicular hypoplasia

Clinical features from OMIM:

168550

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 29 MSX2

Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

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

41
Bone

Publications for Parietal Foramina with Cleidocranial Dysplasia

Articles related to Parietal Foramina with Cleidocranial Dysplasia:

# Title Authors PMID Year
1
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. 38 8 71
14571277 2003
2
Enlarged Parietal Foramina 71
20301307 2004

Variations for Parietal Foramina with Cleidocranial Dysplasia

ClinVar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MSX2 NM_002449.5(MSX2): c.505_508dup (p.Ala170fs) duplication Pathogenic 5:174156286-174156287 5:174729283-174729284

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

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 RUNX2 MSX2
2 osteoblast differentiation GO:0001649 9.43 RUNX2 MSX2
3 ossification GO:0001503 9.4 RUNX2 MSX2
4 BMP signaling pathway GO:0030509 9.37 RUNX2 MSX2
5 positive regulation of osteoblast differentiation GO:0045669 9.32 RUNX2 MSX2
6 embryonic forelimb morphogenesis GO:0035115 9.26 RUNX2 MSX2
7 stem cell differentiation GO:0048863 9.16 RUNX2 MSX2
8 osteoblast development GO:0002076 8.96 RUNX2 MSX2
9 chondrocyte development GO:0002063 8.62 RUNX2 MSX2

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 RUNX2 MSX2

Sources for Parietal Foramina with Cleidocranial Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....