CPHD1
MCID: PTT020
MIFTS: 21

Pituitary Hormone Deficiency, Combined 1 (CPHD1) malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Pituitary Hormone Deficiency, Combined 1

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47OMIM, 33MalaCards
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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:47 613038

Aliases & Classifications for Pituitary Hormone Deficiency, Combined 1

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Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 62UMLS
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Classifications:

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


Aliases & Descriptions:

pituitary hormone deficiency, combined 1 43 22
pituitary hormone deficiency, combined, 1 47 62
cphd1 43


Related Diseases for Pituitary Hormone Deficiency, Combined 1

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Symptoms for Pituitary Hormone Deficiency, Combined 1

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47OMIM
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Symptoms by clinical synopsis from OMIM:

613038

Clinical features from OMIM:

613038

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined 1

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42NIH Clinical Center, 6ClinicalTrials
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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

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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33MalaCards
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MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined 1:

33
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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Variations for Pituitary Hormone Deficiency, Combined 1

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined 1:

64 (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

Clinvar genetic disease variations for Pituitary Hormone Deficiency, Combined 1:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1POU1F1NM_001122757.2(POU1F1): c.743+1G> Tsingle nucleotide variantPathogenicrs515726221GRCh38Chr 3, 87261272: 87261272
2POU1F1NM_001122757.2(POU1F1): c.592C> T (p.Arg198Ter)single nucleotide variantPathogenicrs104893754GRCh37Chr 3, 87311311: 87311311
3POU1F1NM_001122757.2(POU1F1): c.889C> T (p.Arg297Trp)single nucleotide variantPathogenicrs104893755GRCh37Chr 3, 87309109: 87309109
4POU1F1NM_001122757.2(POU1F1): c.550G> C (p.Ala184Pro)single nucleotide variantPathogenicrs104893756GRCh37Chr 3, 87311353: 87311353
5POU1F1NM_001122757.2(POU1F1): c.71C> T (p.Pro24Leu)single nucleotide variantPathogenicrs104893757GRCh37Chr 3, 87325542: 87325542
6POU1F1NM_001122757.2(POU1F1): c.506G> A (p.Arg169Gln)single nucleotide variantPathogenicrs104893759GRCh37Chr 3, 87313449: 87313449
7POU1F1NM_001122757.2(POU1F1): c.826G> T (p.Glu276Ter)single nucleotide variantPathogenicrs104893760GRCh37Chr 3, 87309172: 87309172
8POU1F1NM_001122757.2(POU1F1): c.482T> G (p.Phe161Cys)single nucleotide variantPathogenicrs104893761GRCh37Chr 3, 87313473: 87313473
9POU1F1NM_001122757.2(POU1F1): c.793C> T (p.Pro265Ser)single nucleotide variantPathogenicrs104893762GRCh37Chr 3, 87309205: 87309205
10POU1F1NM_001122757.2(POU1F1): c.825delA (p.Glu276Asnfs)deletionPathogenicGRCh37Chr 3, 87309173: 87309173
11POU1F1NM_001122757.2(POU1F1): c.655T> C (p.Trp219Arg)single nucleotide variantPathogenicrs104893758GRCh37Chr 3, 87311248: 87311248
12POU1F1NM_001122757.2(POU1F1): c.511A> T (p.Lys171Ter)single nucleotide variantPathogenicrs104893763GRCh37Chr 3, 87313444: 87313444
13POU1F1NM_001122757.2(POU1F1): c.766G> A (p.Glu256Lys)single nucleotide variantPathogenicrs104893764GRCh37Chr 3, 87309232: 87309232
14POU1F1NM_001122757.2(POU1F1): c.593G> A (p.Arg198Gln)single nucleotide variantPathogenicrs104893765GRCh37Chr 3, 87311310: 87311310
15POU1F1NM_001122757.2(POU1F1): c.853dupA (p.Arg285Lysfs)duplicationPathogenicGRCh37Chr 3, 87309145: 87309145
16POU1F1NM_001122757.2(POU1F1): c.615C> G (p.Ser205Arg)single nucleotide variantPathogenicrs104893766GRCh37Chr 3, 87311288: 87311288

Expression for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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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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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