MCID: PRT059
MIFTS: 33

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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47OMIM, 33MalaCards
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MalaCards: Parietal Foramina 1, also known as parietal foramina, is related to enlarged parietal foramina and craniosynostosis. 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.

Description from OMIM:47 168500,609566,609597

Aliases & Classifications for Parietal Foramina 1

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Sources:
49Orphanet, 20GeneTests, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
parietal foramina:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

parietal foramina 1 20 22 47 62
parietal foramina 49 62
foramina parietalia permagna 49
hereditary cranium bifidum 49
enlarged parietal foramina 49
catlin marks 49


External Ids:

ICD10 via Orphanet26 Q75.8

Related Diseases for Parietal Foramina 1

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Sources:
17GeneCards, 18GeneDecks
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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 foramina31.5ALX4, MSX2
2craniosynostosis30.5MSX2
3synostosis30.4ALX4, MSX2
4parietal foramina 210.5
5parietal foramina with cleidocranial dysplasia10.5
6headache10.5
7dysostosis10.5
8saethre-chotzen syndrome10.3
9cleidocranial dysplasia10.3
10cerebritis10.3
11osteoporosis10.3
12aplasia cutis congenita10.3
13potocki-shaffer syndrome10.3
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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47OMIM
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Symptoms by clinical synopsis from OMIM:

168500

Clinical features from OMIM:

168500,609566,609597

Drugs & Therapeutics for Parietal Foramina 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Parietal Foramina 1:

33
Bone

Animal Models for Parietal Foramina 1 or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Parietal Foramina 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.7MSX2
2MP:00053719.3ALX4, MSX2
3MP:00053829.3ALX4, MSX2
4MP:00053819.3ALX4, MSX2
5MP:00053919.2MSX2, ALX4
6MP:00053699.2MSX2, ALX4
7MP:00028739.1MSX2, ALX4
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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Sources:
64UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Parietal Foramina 1

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
16Gene Ontology
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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
  • Antibodies

Sources for Parietal Foramina 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet