MCID: PRT059
MIFTS: 34

Parietal Foramina 1 malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Parietal Foramina 1

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MalaCards based summary: Parietal Foramina 1, also known as foramina parietalia permagna, is related to enlarged parietal foramina and craniosynostosis, and has symptoms including An important gene associated with Parietal Foramina 1 is MSX2 (msh homeobox 2). Affiliated tissues include bone, and related mouse phenotypes are skeleton and limbs/digits/tail.

Descriptions from OMIM:46 168500,609566,609597

Aliases & Classifications for Parietal Foramina 1

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Sources:
48Orphanet, 62UMLS, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet
See all sources

Parietal Foramina 1, Aliases & Descriptions:

Name: Parietal Foramina 1 20 22 46 62
Foramina Parietalia Permagna 48 62
Enlarged Parietal Foramina 48 62
Parietal Foramina 48 62
Fenestrae Parietales Symmetricae 48
 
Parietal Foramina, Symmetric 62
Cranium Bifidum, Hereditary 62
Symmetric Parietal Foramina 48
Hereditary Cranium Bifidum 48
Catlin Marks 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
foramina parietalia permagna:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q75.8

Related Diseases for Parietal Foramina 1

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Diseases in the Parietal Foramina 1 family:

Enlarged Parietal Foramina Parietal Foramina 2

Diseases related to Parietal Foramina 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1enlarged parietal foramina31.4ALX4, MSX2
2craniosynostosis30.6MSX2
3synostosis30.1ALX4, MSX2
4parietal foramina 210.6
5parietal foramina with cleidocranial dysplasia10.6
6headache10.5
7dysostosis10.5
8potocki-shaffer syndrome10.5
9saethre-chotzen syndrome10.4
10cleidocranial dysplasia10.4
11osteoporosis10.3
12cerebritis10.3
13aplasia cutis congenita10.3
14mental retardation10.3
15meningocele10.2
16imperforate anus10.2

Graphical network of diseases related to Parietal Foramina 1:



Diseases related to parietal foramina 1

Symptoms for Parietal Foramina 1

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Symptoms by clinical synopsis from OMIM:

168500

Clinical features from OMIM:

168500,609566,609597

HPO human phenotypes related to Parietal Foramina 1:

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cleft palate HP:0000175
3 cleft upper lip HP:0000204
4 seizures HP:0001250
5 heterogeneous HP:0001425
6 encephalocele HP:0002084
7 headache HP:0002315
8 symmetrical, oval parietal bone defects HP:0002695
9 parietal foramina HP:0002697
10 aplasia cutis congenita of scalp HP:0007385

Drugs & Therapeutics for Parietal Foramina 1

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Drug clinical trials:

Search ClinicalTrials for Parietal Foramina 1

Search NIH Clinical Center for Parietal Foramina 1

Genetic Tests for Parietal Foramina 1

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Genetic tests related to Parietal Foramina 1:

id Genetic test Affiliating Genes
1 Parietal Foramina 120 22 MSX2

Anatomical Context for Parietal Foramina 1

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MalaCards organs/tissues related to Parietal Foramina 1:

32
Bone

Animal Models for Parietal Foramina 1 or affiliated genes

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MGI Mouse Phenotypes related to Parietal Foramina 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.7MSX2
2MP:00053719.3ALX4, MSX2
3MP:00053829.3ALX4, MSX2
4MP:00053819.3ALX4, MSX2
5MP:00053919.2ALX4, MSX2
6MP:00053699.2MSX2, ALX4
7MP:00028739.1ALX4, MSX2
8MP:00107719.0ALX4, MSX2
9MP:00053808.8ALX4, MSX2

Publications for Parietal Foramina 1

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Variations for Parietal Foramina 1

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UniProtKB/Swiss-Prot genetic disease variations for Parietal Foramina 1:

64
id Symbol AA change Variation ID SNP ID
1MSX2p.Arg172HisVAR_010201
2MSX2p.Leu154ProVAR_010786

Clinvar genetic disease variations for Parietal Foramina 1:

6
id Gene Name Type Significance SNP ID Assembly Location
1ALX4NM_021926.3(ALX4): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs104894191GRCh37Chr 11, 44331195: 44331195
2ALX4NM_021926.3(ALX4): c.736C> T (p.Gln246Ter)single nucleotide variantPathogenicrs104894192GRCh37Chr 11, 44296939: 44296939
3ALX4NM_021926.3(ALX4): c.653G> A (p.Arg218Gln)single nucleotide variantPathogenicrs104894193GRCh37Chr 11, 44297022: 44297022
4ALX4ALX4, 1-BP DEL, 504TdeletionPathogenic
5ALX4NM_021926.3(ALX4): c.815G> C (p.Arg272Pro)single nucleotide variantPathogenicrs104894196GRCh37Chr 11, 44289135: 44289135
6ALX4NM_021926.3(ALX4): c.620C> A (p.Ser207Ter)single nucleotide variantPathogenicrs104894197GRCh37Chr 11, 44297055: 44297055
7ALX4NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs)deletionPathogenicrs387906325GRCh37Chr 11, 44331219: 44331228

Expression for genes affiliated with Parietal Foramina 1

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Expression patterns in normal tissues for genes affiliated with Parietal Foramina 1

Search GEO for disease gene expression data for Parietal Foramina 1.

Pathways for genes affiliated with Parietal Foramina 1

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Compounds for genes affiliated with Parietal Foramina 1

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GO Terms for genes affiliated with Parietal Foramina 1

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Cellular components related to Parietal Foramina 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1ALX4, MSX2

Biological processes related to Parietal Foramina 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:0099529.1ALX4, MSX2
2embryonic hindlimb morphogenesisGO:0351169.0ALX4, MSX2
3embryonic forelimb morphogenesisGO:0351158.8ALX4, MSX2

Molecular functions related to Parietal Foramina 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1ALX4, MSX2

Products for genes affiliated with Parietal Foramina 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Parietal Foramina 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet