CPHD1
MCID: PTT020
MIFTS: 21

Pituitary Hormone Deficiency, Combined 1 (CPHD1) malady

Endocrine diseases category

Summaries for Pituitary Hormone Deficiency, Combined 1

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46OMIM, 32MalaCards
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MalaCards: Pituitary Hormone Deficiency, Combined 1, is also known as pituitary hormone deficiency, combined, 1 An important gene associated with Pituitary Hormone Deficiency, Combined 1 is POU1F1 (POU class 1 homeobox 1). Affiliated tissues include pituitary, eye and thyroid.

Description from OMIM:46 613038

Aliases & Classifications for Pituitary Hormone Deficiency, Combined 1

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 60UMLS
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Classifications:

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


Aliases & Descriptions:

pituitary hormone deficiency, combined 1 42 22
pituitary hormone deficiency, combined, 1 46 60
cphd1 42


Related Diseases for Pituitary Hormone Deficiency, Combined 1

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Clinical Features for Pituitary Hormone Deficiency, Combined 1

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Sources:
46OMIM
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Clinical features from OMIM:

613038

Clinical synopsis from OMIM:

613038

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Pituitary Hormone Deficiency, Combined 1

Search NIH Clinical Center for Pituitary Hormone Deficiency, Combined 1

Search CenterWatch for Pituitary Hormone Deficiency, Combined 1

Genetic Tests for Pituitary Hormone Deficiency, Combined 1

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22GTR
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Genetic tests related to Pituitary Hormone Deficiency, Combined 1:

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 122

Anatomical Context for Pituitary Hormone Deficiency, Combined 1

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32MalaCards
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MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined 1:

32
Pituitary, Eye, Thyroid

Animal Models for Pituitary Hormone Deficiency, Combined 1 or affiliated genes

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Publications for Pituitary Hormone Deficiency, Combined 1

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Genetic Variations for Pituitary Hormone Deficiency, Combined 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Pituitary Hormone Deficiency, Combined 1:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1POU1F1p.Pro24LeuVAR_003777
2POU1F1p.Arg143GlnVAR_003778
3POU1F1p.Ala158ProVAR_003779
4POU1F1p.Arg271TrpVAR_003781
5POU1F1p.Phe135CysVAR_010574
6POU1F1p.Glu174GlyVAR_010575
7POU1F1p.Pro239SerVAR_010576
8POU1F1p.Trp193ArgVAR_015260
9POU1F1p.Arg172GlnVAR_063425
10POU1F1p.Ser179ArgVAR_063426
11POU1F1p.Glu230LysVAR_063427

Expression for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pituitary Hormone Deficiency, Combined 1

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined 1.

Pathways for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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Compounds for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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GO Terms for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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Products for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pituitary Hormone Deficiency, Combined 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet