PFM3
MCID: PRT113
MIFTS: 16

Parietal Foramina 3 (PFM3)

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

Aliases & Classifications for Parietal Foramina 3

MalaCards integrated aliases for Parietal Foramina 3:

Name: Parietal Foramina 3 57 70
Pfm3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see pfm1, )


HPO:

31
parietal foramina 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 609566
OMIM Phenotypic Series 57 PS168500
MedGen 41 C1835980
UMLS 70 C1835980

Summaries for Parietal Foramina 3

OMIM® : 57 Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone (Chen et al., 2003). For a discussion of genetic heterogeneity of parietal foramina, see 168500. (609566) (Updated 05-Apr-2021)

MalaCards based summary : Parietal Foramina 3, also known as pfm3, is related to parietal foramina. An important gene associated with Parietal Foramina 3 is PFM3 (Parietal Foramina 3). Affiliated tissues include bone, and related phenotypes are aplasia cutis congenita of scalp and encephalocele

Related Diseases for Parietal Foramina 3

Diseases in the Parietal Foramina family:

Parietal Foramina 1 Parietal Foramina 3
Parietal Foramina 2

Diseases related to Parietal Foramina 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parietal foramina 11.1

Symptoms & Phenotypes for Parietal Foramina 3

Human phenotypes related to Parietal Foramina 3:

31
# Description HPO Frequency HPO Source Accession
1 aplasia cutis congenita of scalp 31 HP:0007385
2 encephalocele 31 HP:0002084
3 parietal foramina 31 HP:0002697
4 symmetrical, oval parietal bone defects 31 HP:0002695

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Skull:
symmetrical, oval parietal bone defects
cranium bifidum

Skin Nails Hair Skin:
scalp defect

Clinical features from OMIM®:

609566 (Updated 05-Apr-2021)

Drugs & Therapeutics for Parietal Foramina 3

Search Clinical Trials , NIH Clinical Center for Parietal Foramina 3

Genetic Tests for Parietal Foramina 3

Anatomical Context for Parietal Foramina 3

MalaCards organs/tissues related to Parietal Foramina 3:

40
Bone

Publications for Parietal Foramina 3

Articles related to Parietal Foramina 3:

# Title Authors PMID Year
1
A novel locus for parietal foramina maps to chromosome 4q21-q23. 57
12905082 2003
2
Genetic and functional diversity among the antagonistic potential fluorescent pseudomonads isolated from tea rhizosphere. 61
20689953 2011
3
The maturation of coliphage lambda DNA in the absence of its packaging. 61
6096213 1984

Variations for Parietal Foramina 3

Expression for Parietal Foramina 3

Search GEO for disease gene expression data for Parietal Foramina 3.

Pathways for Parietal Foramina 3

GO Terms for Parietal Foramina 3

Sources for Parietal Foramina 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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