MCID: PTT060
MIFTS: 16

Pituitary Adenoma 5, Multiple Types

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Pituitary Adenoma 5, Multiple Types

MalaCards integrated aliases for Pituitary Adenoma 5, Multiple Types:

Name: Pituitary Adenoma 5, Multiple Types 57 75 6
Pita5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
adenomas may be functioning or nonfunctioning
incomplete penetrance


Classifications:



External Ids:

OMIM 57 617540
MeSH 44 D010911

Summaries for Pituitary Adenoma 5, Multiple Types

UniProtKB/Swiss-Prot : 75 Pituitary adenoma 5, multiple types: 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: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance.

MalaCards based summary : Pituitary Adenoma 5, Multiple Types, also known as pita5, is related to retinitis pigmentosa. An important gene associated with Pituitary Adenoma 5, Multiple Types is CDH23 (Cadherin Related 23). Affiliated tissues include pituitary and thyroid.

OMIM : 57 Both familial and sporadic pituitary adenomas have been found to be caused by germline mutation in the CDH23 gene. Familial pituitary adenoma types include growth hormone (GH)-secreting and nonfunctional tumors. Sporadic pituitary adenoma types include GH-secreting, nonfunctional, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (102200). (617540)

Related Diseases for Pituitary Adenoma 5, Multiple Types

Diseases in the Pituitary Adenoma family:

Pituitary Adenoma 1, Multiple Types Pituitary Adenoma 5, Multiple Types
Pituitary Adenoma 3, Multiple Types

Diseases related to Pituitary Adenoma 5, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 9.0 C10orf105 CDH23

Symptoms & Phenotypes for Pituitary Adenoma 5, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
pituitary adenoma

Endocrine Features:
pituitary adenoma


Clinical features from OMIM:

617540

Drugs & Therapeutics for Pituitary Adenoma 5, Multiple Types

Search Clinical Trials , NIH Clinical Center for Pituitary Adenoma 5, Multiple Types

Genetic Tests for Pituitary Adenoma 5, Multiple Types

Anatomical Context for Pituitary Adenoma 5, Multiple Types

MalaCards organs/tissues related to Pituitary Adenoma 5, Multiple Types:

41
Pituitary, Thyroid

Publications for Pituitary Adenoma 5, Multiple Types

Variations for Pituitary Adenoma 5, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Adenoma 5, Multiple Types:

75
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Arg1379Leu VAR_080381

ClinVar genetic disease variations for Pituitary Adenoma 5, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.4136G> T (p.Arg1379Leu) single nucleotide variant Pathogenic rs767004225 GRCh38 Chromosome 10, 71734271: 71734271
2 CDH23 NM_022124.5(CDH23): c.4136G> T (p.Arg1379Leu) single nucleotide variant Pathogenic rs767004225 GRCh37 Chromosome 10, 73494028: 73494028
3 CDH23 NM_022124.5(CDH23): c.6344G> A (p.Arg2115His) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 73553029: 73553029
4 CDH23 NM_022124.5(CDH23): c.6344G> A (p.Arg2115His) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 71793272: 71793272
5 CDH23 NM_022124.5(CDH23): c.9412C> T (p.Arg3138Trp) single nucleotide variant Pathogenic rs1052484950 GRCh37 Chromosome 10, 73572268: 73572268
6 CDH23 NM_022124.5(CDH23): c.9412C> T (p.Arg3138Trp) single nucleotide variant Pathogenic rs1052484950 GRCh38 Chromosome 10, 71812511: 71812511
7 CDH23 NM_022124.5(CDH23): c.9886G> A (p.Asp3296Asn) single nucleotide variant Pathogenic rs372388344 GRCh37 Chromosome 10, 73574856: 73574856
8 CDH23 NM_022124.5(CDH23): c.9886G> A (p.Asp3296Asn) single nucleotide variant Pathogenic rs372388344 GRCh38 Chromosome 10, 71815099: 71815099

Cosmic variations for Pituitary Adenoma 5, Multiple Types:

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 COSM771 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 10
2 COSM760 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 10
3 COSM22623 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 10
4 COSM483 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 10
5 COSM482 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 10
6 COSM27887 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 20:58909365-58909365 10
7 COSM27896 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 10
8 COSM27899 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 10
9 COSM27895 GNAS pituitary,NS,adenoma,GH c.602G>A p.R201H 20:58909366-58909366 10
10 COSM27888 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 10

Expression for Pituitary Adenoma 5, Multiple Types

Search GEO for disease gene expression data for Pituitary Adenoma 5, Multiple Types.

Pathways for Pituitary Adenoma 5, Multiple Types

GO Terms for Pituitary Adenoma 5, Multiple Types

Sources for Pituitary Adenoma 5, Multiple Types

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74 UMLS via Orphanet
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