CPHD6
MCID: OTX001
MIFTS: 11

Otx2-Related Combined Pituitary Hormone Deficiency (CPHD6) malady

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Otx2-Related Combined Pituitary Hormone Deficiency

Aliases & Descriptions for Otx2-Related Combined Pituitary Hormone Deficiency:

Name: Otx2-Related Combined Pituitary Hormone Deficiency 24
Combined Pituitary Hormone Deficiency 6 24 29
Pituitary Hormone Deficiency, Combined, 6 69
Cphd6 24

Classifications:



Summaries for Otx2-Related Combined Pituitary Hormone Deficiency

MalaCards based summary : Otx2-Related Combined Pituitary Hormone Deficiency, also known as combined pituitary hormone deficiency 6, is related to pituitary hormone deficiency, combined, 6 and pituitary hormone deficiency, combined, 1. An important gene associated with Otx2-Related Combined Pituitary Hormone Deficiency is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary.

Related Diseases for Otx2-Related Combined Pituitary Hormone Deficiency

Diseases related to Otx2-Related Combined Pituitary Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pituitary hormone deficiency, combined, 6 11.4
2 pituitary hormone deficiency, combined, 1 10.8

Symptoms & Phenotypes for Otx2-Related Combined Pituitary Hormone Deficiency

Drugs & Therapeutics for Otx2-Related Combined Pituitary Hormone Deficiency

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

Genetic Tests for Otx2-Related Combined Pituitary Hormone Deficiency

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

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 6 29
2 Otx2-Related Combined Pituitary Hormone Deficiency 24 OTX2

Anatomical Context for Otx2-Related Combined Pituitary Hormone Deficiency

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

39
Pituitary

Publications for Otx2-Related Combined Pituitary Hormone Deficiency

Variations for Otx2-Related Combined Pituitary Hormone Deficiency

ClinVar genetic disease variations for Otx2-Related Combined Pituitary Hormone Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OTX2 NM_172337.2(OTX2): c.674A> G (p.Asn225Ser) single nucleotide variant Pathogenic rs370761964 GRCh37 Chromosome 14, 57268649: 57268649

Expression for Otx2-Related Combined Pituitary Hormone Deficiency

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

Pathways for Otx2-Related Combined Pituitary Hormone Deficiency

GO Terms for Otx2-Related Combined Pituitary Hormone Deficiency

Sources for Otx2-Related Combined Pituitary Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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