MCID: P1F001
MIFTS: 6

Pou1f1-Related Combined Pituitary Hormone Deficiency malady

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Pou1f1-Related Combined Pituitary Hormone Deficiency

Aliases & Descriptions for Pou1f1-Related Combined Pituitary Hormone Deficiency:

Name: Pou1f1-Related Combined Pituitary Hormone Deficiency 24
Combined Pituitary Hormone Deficiency 1 24

Classifications:



Summaries for Pou1f1-Related Combined Pituitary Hormone Deficiency

MalaCards based summary : Pou1f1-Related Combined Pituitary Hormone Deficiency, also known as combined pituitary hormone deficiency 1, is related to pituitary hormone deficiency, combined, 1. An important gene associated with Pou1f1-Related Combined Pituitary Hormone Deficiency is POU1F1 (POU Class 1 Homeobox 1). Affiliated tissues include pituitary.

Related Diseases for Pou1f1-Related Combined Pituitary Hormone Deficiency

Diseases related to Pou1f1-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, 1 11.1

Symptoms & Phenotypes for Pou1f1-Related Combined Pituitary Hormone Deficiency

Drugs & Therapeutics for Pou1f1-Related Combined Pituitary Hormone Deficiency

Search Clinical Trials , NIH Clinical Center for Pou1f1-Related Combined Pituitary Hormone Deficiency

Genetic Tests for Pou1f1-Related Combined Pituitary Hormone Deficiency

Genetic tests related to Pou1f1-Related Combined Pituitary Hormone Deficiency:

id Genetic test Affiliating Genes
1 Pou1f1-Related Combined Pituitary Hormone Deficiency 24 POU1F1

Anatomical Context for Pou1f1-Related Combined Pituitary Hormone Deficiency

MalaCards organs/tissues related to Pou1f1-Related Combined Pituitary Hormone Deficiency:

39
Pituitary

Publications for Pou1f1-Related Combined Pituitary Hormone Deficiency

Variations for Pou1f1-Related Combined Pituitary Hormone Deficiency

ClinVar genetic disease variations for Pou1f1-Related Combined Pituitary Hormone Deficiency:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 POU1F1 NM_001122757.2(POU1F1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs104893754 GRCh37 Chromosome 3, 87311311: 87311311
2 POU1F1 NM_001122757.2(POU1F1): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs104893755 GRCh37 Chromosome 3, 87309109: 87309109
3 POU1F1 NM_001122757.2(POU1F1): c.550G> C (p.Ala184Pro) single nucleotide variant Pathogenic rs104893756 GRCh37 Chromosome 3, 87311353: 87311353
4 POU1F1 NM_001122757.2(POU1F1): c.71C> T (p.Pro24Leu) single nucleotide variant Pathogenic rs104893757 GRCh37 Chromosome 3, 87325542: 87325542
5 POU1F1 NM_001122757.2(POU1F1): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs104893759 GRCh37 Chromosome 3, 87313449: 87313449
6 POU1F1 NM_001122757.2(POU1F1): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs104893760 GRCh37 Chromosome 3, 87309172: 87309172
7 POU1F1 NM_001122757.2(POU1F1): c.482T> G (p.Phe161Cys) single nucleotide variant Pathogenic rs104893761 GRCh37 Chromosome 3, 87313473: 87313473
8 POU1F1 NM_001122757.2(POU1F1): c.793C> T (p.Pro265Ser) single nucleotide variant Pathogenic rs104893762 GRCh37 Chromosome 3, 87309205: 87309205
9 POU1F1 NM_001122757.2(POU1F1): c.825delA (p.Glu276Asnfs) deletion Pathogenic rs587776798 GRCh37 Chromosome 3, 87309173: 87309173
10 POU1F1 NM_001122757.2(POU1F1): c.655T> C (p.Trp219Arg) single nucleotide variant Pathogenic rs104893758 GRCh37 Chromosome 3, 87311248: 87311248
11 POU1F1 NM_001122757.2(POU1F1): c.511A> T (p.Lys171Ter) single nucleotide variant Pathogenic rs104893763 GRCh37 Chromosome 3, 87313444: 87313444
12 POU1F1 NM_001122757.2(POU1F1): c.766G> A (p.Glu256Lys) single nucleotide variant Pathogenic rs104893764 GRCh37 Chromosome 3, 87309232: 87309232
13 POU1F1 NM_001122757.2(POU1F1): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs104893765 GRCh37 Chromosome 3, 87311310: 87311310
14 POU1F1 NM_001122757.2(POU1F1): c.853dupA (p.Arg285Lysfs) duplication Pathogenic rs587776799 GRCh37 Chromosome 3, 87309145: 87309145
15 POU1F1 NM_001122757.2(POU1F1): c.615C> G (p.Ser205Arg) single nucleotide variant Pathogenic rs104893766 GRCh37 Chromosome 3, 87311288: 87311288
16 POU1F1 NM_001122757.2(POU1F1): c.743+1G> T single nucleotide variant Pathogenic rs515726221 GRCh38 Chromosome 3, 87261272: 87261272
17 POU1F1 NM_001122757.2(POU1F1): c.712_716delGAAAG (p.Arg239Lysfs) deletion Pathogenic rs886037826 GRCh37 Chromosome 3, 87310450: 87310454

Expression for Pou1f1-Related Combined Pituitary Hormone Deficiency

Search GEO for disease gene expression data for Pou1f1-Related Combined Pituitary Hormone Deficiency.

Pathways for Pou1f1-Related Combined Pituitary Hormone Deficiency

GO Terms for Pou1f1-Related Combined Pituitary Hormone Deficiency

Sources for Pou1f1-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
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37 KEGG
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42 MeSH
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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