MCID: PTT058
MIFTS: 15

Pituitary Adenoma 2, Growth Hormone-Secreting

Categories: Genetic diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Pituitary Adenoma 2, Growth Hormone-Secreting

MalaCards integrated aliases for Pituitary Adenoma 2, Growth Hormone-Secreting:

Name: Pituitary Adenoma 2, Growth Hormone-Secreting 57 75
Acromegaly Due to Pituitary Adenoma 2 57 75
Acromegaly, X-Linked 57 75
Pita2 57 75
Adenoma, Pituitary, Growth Hormone-Secreting, Type 2 40
Pituitary Adenoma, Growth Hormone-Secreting, 2 6
Pituitary Adenoma 2, Gh-Secreting 57

Classifications:



External Ids:

OMIM 57 300943
MedGen 42 C4012409
SNOMED-CT via HPO 69 74107003 128664001 254956000

Summaries for Pituitary Adenoma 2, Growth Hormone-Secreting

UniProtKB/Swiss-Prot : 75 Pituitary adenoma 2, growth hormone-secreting: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA2 is a growth hormone-secreting benign neoplasm, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature.

MalaCards based summary : Pituitary Adenoma 2, Growth Hormone-Secreting, is also known as acromegaly due to pituitary adenoma 2. An important gene associated with Pituitary Adenoma 2, Growth Hormone-Secreting is GPR101 (G Protein-Coupled Receptor 101). Affiliated tissues include pituitary, and related phenotypes are growth hormone excess and pituitary adenoma

Description from OMIM: 300943

Related Diseases for Pituitary Adenoma 2, Growth Hormone-Secreting

Diseases in the Growth Hormone Secreting Pituitary Adenoma family:

Pituitary Adenoma 2, Growth Hormone-Secreting

Symptoms & Phenotypes for Pituitary Adenoma 2, Growth Hormone-Secreting

Clinical features from OMIM:

300943

Human phenotypes related to Pituitary Adenoma 2, Growth Hormone-Secreting:

32
# Description HPO Frequency HPO Source Accession
1 growth hormone excess 32 HP:0000845
2 pituitary adenoma 32 HP:0002893

Drugs & Therapeutics for Pituitary Adenoma 2, Growth Hormone-Secreting

Search Clinical Trials , NIH Clinical Center for Pituitary Adenoma 2, Growth Hormone-Secreting

Genetic Tests for Pituitary Adenoma 2, Growth Hormone-Secreting

Anatomical Context for Pituitary Adenoma 2, Growth Hormone-Secreting

MalaCards organs/tissues related to Pituitary Adenoma 2, Growth Hormone-Secreting:

41
Pituitary

Publications for Pituitary Adenoma 2, Growth Hormone-Secreting

Variations for Pituitary Adenoma 2, Growth Hormone-Secreting

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Adenoma 2, Growth Hormone-Secreting:

75
# Symbol AA change Variation ID SNP ID
1 GPR101 p.Glu308Asp VAR_072691 rs73637412

ClinVar genetic disease variations for Pituitary Adenoma 2, Growth Hormone-Secreting:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR101 NM_054021.1(GPR101): c.924G> C (p.Glu308Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs73637412 GRCh38 Chromosome X, 137030751: 137030751
2 GPR101 NM_054021.1(GPR101): c.924G> C (p.Glu308Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs73637412 GRCh37 Chromosome X, 136112910: 136112910
3 GPR101 NM_054021.1(GPR101): c.1098C> A (p.Asp366Glu) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome X, 136112736: 136112736
4 GPR101 NM_054021.1(GPR101): c.1098C> A (p.Asp366Glu) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome X, 137030577: 137030577

Cosmic variations for Pituitary Adenoma 2, Growth Hormone-Secreting:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM483 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 15
2 COSM27887 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 20:58909365-58909365 15
3 COSM27896 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 15
4 COSM27899 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 15
5 COSM27895 GNAS pituitary,NS,adenoma,GH c.602G>A p.R201H 20:58909366-58909366 15
6 COSM27888 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 15

Expression for Pituitary Adenoma 2, Growth Hormone-Secreting

Search GEO for disease gene expression data for Pituitary Adenoma 2, Growth Hormone-Secreting.

Pathways for Pituitary Adenoma 2, Growth Hormone-Secreting

GO Terms for Pituitary Adenoma 2, Growth Hormone-Secreting

Sources for Pituitary Adenoma 2, Growth Hormone-Secreting

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17 ExPASy
19 FMA
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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