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 58 60 76 30 13 6 74
Cleidocranial Dysplasia with Parietal Foramina 58 76
Pfmccd 58 76
Foramina, Parietal, with Cleidocranial Dysplasia 41
Parietal Foramina with Clavicular Hypoplasia 60

Characteristics:

Orphanet epidemiological data:

60
parietal foramina with clavicular hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
parietal foramina with cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 168550
ICD10 via Orphanet 35 Q74.0
UMLS via Orphanet 75 C1868597
Orphanet 60 ORPHA251290
MedGen 43 C1868597
UMLS 74 C1868597

Summaries for Parietal Foramina with Cleidocranial Dysplasia

UniProtKB/Swiss-Prot : 76 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

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 30.0 RUNX2 MSX2
2 cleidocranial dysplasia 30.0 RUNX2 MSX2
3 bone development disease 9.6 RUNX2 MSX2
4 saethre-chotzen syndrome 9.5 RUNX2 MSX2

Symptoms & Phenotypes for Parietal Foramina with Cleidocranial Dysplasia

Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 microtia 33 HP:0008551
3 short clavicles 33 HP:0000894
4 widely patent fontanelles and sutures 33 HP:0004492
5 dermoid cyst 33 HP:0025247
6 parietal foramina 33 HP:0002697
7 symmetrical, oval parietal bone defects 33 HP:0002695

Symptoms via clinical synopsis from OMIM:

58
Skel:
clavicular hypoplasia

Radiology:
symmetrical, oval defects in the parietal bone

Head:
persistent wide fontanel

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 30 MSX2

Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

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

42
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 NM_002449.5(MSX2): c.505_508dup (p.Ala170Aspfs) duplication Pathogenic GRCh38 Chromosome 5, 174729284: 174729287
2 MSX2 NM_002449.5(MSX2): c.505_508dup (p.Ala170Aspfs) duplication Pathogenic GRCh37 Chromosome 5, 174156287: 174156290

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 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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