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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hyperpituitarism
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Accession:DOID:2444 term browser browse the term
Definition:Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA.
Synonyms:exact_synonym: Inappropriate FSH Secretion Syndrome;   Inappropriate Follicle Stimulating Hormone Secretion;   Inappropriate LH Secretion Syndrome;   Inappropriate Luteinizing Hormone Secretion;   Inappropriate TSH Secretion Syndrome;   Inappropriate Thyroid Stimulating Hormone Secretion;   Pituitary FSH Hypersecretion;   Pituitary LH Hypersecretion;   Pituitary TSH Hypersecretion
 primary_id: MESH:D006964;   RDO:0004720
For additional species annotation, visit the Alliance of Genome Resources.


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acromegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667, PMID:3059976, PMID:6237480, PMID:7440347, PMID:9186818, PMID:18381583, PMID:18388193 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667, PMID:9186818, PMID:18381583, PMID:18388193 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
Gigantism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
Growth Hormone Excess term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO ClinVar Annotator: match by term: Growth hormone excess ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
hyperprolactinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc3 ATP binding cassette subfamily C member 3 IEP protein:increased expression:liver RGD PMID:23486593 RGD:11535162 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Drd2 dopamine receptor D2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:15286066, PMID:19339912, PMID:26297122 RGD:13506955 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:increased expression:ovary (rat) RGD PMID:2149342 RGD:4889596
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IEP mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 8:7,128,656...7,187,796
Ensembl chr 8:7,128,656...7,187,796
JBrowse link
G Prl prolactin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:2880862, PMID:2948424, PMID:4001434, PMID:17303669, PMID:17303669 RGD:1642575 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Hyperprolactinemia
ClinVar Annotator: match by OMIM:615555
OMIM
ClinVar
PMID:30575453 NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
JBrowse link
G Slc6a3 solute carrier family 6 member 3 treatment IEP RGD PMID:26297122 RGD:13506955 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 1:36,320,504...36,354,694
Ensembl chr 1:36,320,461...36,354,756
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
G Th tyrosine hydroxylase treatment IEP protein:increased tyrosine nitration:hypothalamus, median eminence (rat) RGD PMID:21178126, PMID:26297122 RGD:5128768, RGD:13506955 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
pituitary-dependent Cushing's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:17360484, PMID:18381572, PMID:19366855, PMID:20506337, PMID:20530095, PMID:21454441, PMID:21753072, PMID:22319033, PMID:22720333, PMID:23300914, PMID:23321498, PMID:23633209, PMID:24033266, PMID:25093619, PMID:25184284, PMID:25203624, PMID:25333069, PMID:25741868, PMID:27153395, PMID:28492532, PMID:29074612, PMID:30461320, PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Pituitary ACTH Hypersecretion ClinVar PMID:7737262 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16809932 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16809932 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Scg5 secretogranin V ISS MouseDO NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Pituitary ACTH Hypersecretion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25485838, PMID:25675982, PMID:25942478 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
JBrowse link
Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: RAHMAN SYNDROME ClinVar
OMIM
PMID:23945933, PMID:25081361, PMID:25741868, PMID:25741869, PMID:28475857 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome
ClinVar Annotator: match by OMIM:312870
OMIM
ClinVar
PMID:9950367, PMID:10814714, PMID:16158429, PMID:17603795, PMID:17850639, PMID:18203194, PMID:19215053, PMID:23606591, PMID:24459012, PMID:25741868, PMID:26321508, PMID:28492532 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:100,465,365...100,474,128
Ensembl chr 4:100,465,170...100,474,301
JBrowse link
Tatton-Brown-Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome OMIM
ClinVar
PMID:1423634, PMID:2717398, PMID:10325416, PMID:10433969, PMID:10555141, PMID:10647011, PMID:11399089, PMID:12138111, PMID:12359337, PMID:12575993, PMID:15063176, PMID:15672446, PMID:15739230, PMID:16357870, PMID:16501171, PMID:16725135, PMID:17445268, PMID:17878930, PMID:19344873, PMID:19854944, PMID:20228804, PMID:20651149, PMID:20729844, PMID:21067377, PMID:21507354, PMID:21518476, PMID:21844811, PMID:22160010, PMID:22495306, PMID:22722925, PMID:22744846, PMID:22898539, PMID:23849776, PMID:24606448, PMID:24614070, PMID:24622842, PMID:24656771, PMID:24728327, PMID:25741868, PMID:26619011, PMID:26866722, PMID:26876596, PMID:27317772, PMID:27701732, PMID:27991732, PMID:28263302, PMID:28386848, PMID:28475857, PMID:28492532, PMID:28667884, PMID:28941052, PMID:29900417, PMID:32860008 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868, PMID:30311386, PMID:30409806 NCBI chr 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847
JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar
PMID:25196541, PMID:25741868, PMID:28492532 NCBI chr18:15,193,226...15,225,454
Ensembl chr18:15,192,962...15,225,427
JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: THAUVIN-ROBINET-FAIVRE SYNDROME
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar
OMIM
PMID:26660953, PMID:27183861 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        pituitary gland disease 167
          hyperpituitarism 37
            Gigantism + 11
            acromegaly + 4
            hyperprolactinemia + 16
            pituitary-dependent Cushing's disease + 6
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            thalamic disease 213
              hypothalamic disease 213
                pituitary gland disease 167
                  hyperpituitarism 37
                    Gigantism + 11
                    acromegaly + 4
                    hyperprolactinemia + 16
                    pituitary-dependent Cushing's disease + 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.