MCID: OTX001

Otx2-Related Combined Pituitary Hormone Deficiency malady

Genetic diseases (common), Endocrine diseases categories

Summaries for Otx2-Related Combined Pituitary Hormone Deficiency

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34MalaCards
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MalaCards: Otx2-Related Combined Pituitary Hormone Deficiency, is also known as pituitary hormone deficiency, combined, 6 An important gene associated with Otx2-Related Combined Pituitary Hormone Deficiency is OTX2 (orthodenticle homeobox 2). Affiliated tissues include pituitary.

Aliases & Classifications for Otx2-Related Combined Pituitary Hormone Deficiency

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21GeneTests, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Endocrine diseases


Aliases & Descriptions:

otx2-related combined pituitary hormone deficiency 21
pituitary hormone deficiency, combined, 6 63


Related Diseases for Otx2-Related Combined Pituitary Hormone Deficiency

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Symptoms for Otx2-Related Combined Pituitary Hormone Deficiency

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Drugs & Therapeutics for Otx2-Related Combined Pituitary Hormone Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Otx2-Related Combined Pituitary Hormone Deficiency

Drug clinical trials:

Search ClinicalTrials for Otx2-Related Combined Pituitary Hormone Deficiency

Search NIH Clinical Center for Otx2-Related Combined Pituitary Hormone Deficiency

Search CenterWatch for Otx2-Related Combined Pituitary Hormone Deficiency

Genetic Tests for Otx2-Related Combined Pituitary Hormone Deficiency

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21GeneTests
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Genetic tests related to Otx2-Related Combined Pituitary Hormone Deficiency:

id Genetic test Affiliating Genes
1 Otx2-Related Combined Pituitary Hormone Deficiency21 OTX2

Anatomical Context for Otx2-Related Combined Pituitary Hormone Deficiency

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34MalaCards
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MalaCards organs/tissues related to Otx2-Related Combined Pituitary Hormone Deficiency:

34
Pituitary

Animal Models for Otx2-Related Combined Pituitary Hormone Deficiency or affiliated genes

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Publications for Otx2-Related Combined Pituitary Hormone Deficiency

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Variations for Otx2-Related Combined Pituitary Hormone Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Otx2-Related Combined Pituitary Hormone Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1OTX2NM_172337.2(OTX2): c.674A> G (p.Asn225Ser)single nucleotide variantPathogenicrs370761964GRCh37Chr 14, 57268649: 57268649

Expression for genes affiliated with Otx2-Related Combined Pituitary Hormone Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Otx2-Related Combined Pituitary Hormone Deficiency

Search GEO for disease gene expression data for Otx2-Related Combined Pituitary Hormone Deficiency.

Pathways for genes affiliated with Otx2-Related Combined Pituitary Hormone Deficiency

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Compounds for genes affiliated with Otx2-Related Combined Pituitary Hormone Deficiency

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GO Terms for genes affiliated with Otx2-Related Combined Pituitary Hormone Deficiency

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Products for genes affiliated with Otx2-Related Combined Pituitary Hormone Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Otx2-Related Combined Pituitary Hormone Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet