MCID: PRT113
MIFTS: 15

Parietal Foramina 3

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

Aliases & Classifications for Parietal Foramina 3

MalaCards integrated aliases for Parietal Foramina 3:

Name: Parietal Foramina 3 57 73
Pfm3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see pfm1, )


HPO:

32
parietal foramina 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 609566
MedGen 42 C1835980
UMLS 73 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)

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 encephalocele and symmetrical, oval parietal bone defects

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 11.2

Symptoms & Phenotypes for Parietal Foramina 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal Skull:
symmetrical, oval parietal bone defects
cranium bifidum

Skin Nails Hair Skin:
scalp defect


Clinical features from OMIM:

609566

Human phenotypes related to Parietal Foramina 3:

32
# Description HPO Frequency HPO Source Accession
1 encephalocele 32 HP:0002084
2 symmetrical, oval parietal bone defects 32 HP:0002695
3 parietal foramina 32 HP:0002697
4 aplasia cutis congenita of scalp 32 HP:0007385

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:

41
Bone

Publications for Parietal Foramina 3

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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