MCID: OTX001

Otx2-Related Combined Pituitary Hormone Deficiency malady

Genetic diseases (common), Endocrine diseases categories
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Summaries for Otx2-Related Combined Pituitary Hormone Deficiency

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33MalaCards
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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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Sources:
20GeneTests, 62UMLS
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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 20
pituitary hormone deficiency, combined, 6 62


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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Otx2-Related Combined Pituitary Hormone Deficiency

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

Genetic Tests for Otx2-Related Combined Pituitary Hormone Deficiency

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20GeneTests
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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 Deficiency20 OTX2

Anatomical Context for Otx2-Related Combined Pituitary Hormone Deficiency

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33MalaCards
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MalaCards organs/tissues related to Otx2-Related Combined Pituitary Hormone Deficiency:

33
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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Sources:
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, 15Gene 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
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