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PFMCCD
MCID: PRT043
MIFTS: 26

Parietal Foramina with Cleidocranial Dysplasia (PFMCCD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

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MalaCards integrated aliases for Parietal Foramina with Cleidocranial Dysplasia:

Name: Parietal Foramina with Cleidocranial Dysplasia 56 58 73 29 13 6 71
Cleidocranial Dysplasia with Parietal Foramina 56 73
Pfmccd 56 73
Foramina, Parietal, with Cleidocranial Dysplasia 39
Parietal Foramina with Clavicular Hypoplasia 58

Characteristics:

Orphanet epidemiological data:

58
parietal foramina with clavicular hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
parietal foramina with cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 168550
ICD10 via Orphanet 33 Q74.0
UMLS via Orphanet 72 C1868597
Orphanet 58 ORPHA251290
MedGen 41 C1868597
UMLS 71 C1868597
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Summaries for Parietal Foramina with Cleidocranial Dysplasia

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UniProtKB/Swiss-Prot : 73 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
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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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 parietal foramina 30.0 RUNX2 MSX2
2 cleidocranial dysplasia 30.0 RUNX2 MSX2
3 cleidocranial dysplasia spectrum disorder 10.3
4 syndromic craniosynostosis 9.7 RUNX2 MSX2
5 craniosynostosis 9.7 RUNX2 MSX2
6 synostosis 9.7 RUNX2 MSX2
7 apert syndrome 9.7 RUNX2 MSX2
8 crouzon syndrome 9.6 RUNX2 MSX2
9 bone development disease 9.6 RUNX2 MSX2
10 saethre-chotzen syndrome 9.6 RUNX2 MSX2
11 pfeiffer syndrome 9.6 RUNX2 MSX2
12 dysostosis 9.6 RUNX2 MSX2
13 tooth agenesis 9.6 RUNX2 MSX2
14 orofacial cleft 9.5 RUNX2 MSX2
15 brachydactyly 9.5 RUNX2 MSX2
16 cleft palate, isolated 9.4 RUNX2 MSX2
17 aortic valve disease 1 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
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Symptoms & Phenotypes for Parietal Foramina with Cleidocranial Dysplasia

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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 dermoid cyst 31 HP:0025247
6 parietal foramina 31 HP:0002697
7 symmetrical, oval parietal bone defects 31 HP:0002695

Symptoms via clinical synopsis from OMIM:

56
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
Sources

Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

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

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Genetic Tests for Parietal Foramina with Cleidocranial Dysplasia

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Genetic tests related to Parietal Foramina with Cleidocranial Dysplasia:

# Genetic test Affiliating Genes
1 Parietal Foramina with Cleidocranial Dysplasia 29 MSX2
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Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

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

40
Bone
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Publications for Parietal Foramina with Cleidocranial Dysplasia

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Articles related to Parietal Foramina with Cleidocranial Dysplasia:

# Title Authors PMID Year
1
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. 56 6 61
14571277 2003
2
Enlarged Parietal Foramina 6
20301307 2004
Sources

Variations for Parietal Foramina with Cleidocranial Dysplasia

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ClinVar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MSX2 NM_002449.5(MSX2):c.505_508dup (p.Ala170fs)duplication Pathogenic 16967 rs1561643029 5:174156286-174156287 5:174729283-174729284
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Expression for Parietal Foramina with Cleidocranial Dysplasia

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

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GO Terms for Parietal Foramina with Cleidocranial Dysplasia

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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 chondrocyte development GO:0002063 8.96 RUNX2 MSX2
9 osteoblast development GO:0002076 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

Sources for Parietal Foramina with Cleidocranial Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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