Pituitary adenoma 1, multiple types

Preferred Label : Pituitary adenoma 1, multiple types;

Symbol : PITA1;

CISMeF acronym : PAP; PITA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Somatotropinoma, familial isolated; Isolated familial somatotropinoma; Somatotrophinoma, familial; Acromegaly due to pituitary adenoma 1; FIS; IFS; PAGH1;

Included titles and symbols : Pituitary adenoma predisposition; Pituitary adenoma, familial isolated; PAP; FIPA;

Description : Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (GH; 139250)-secreting tumors, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (176760)-secreting tumors (600634), which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, resulting in Cushing disease (219090), and thyrotropin (TSHB; 188540)-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008). Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008). Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007). Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1; 131100), Carney complex (CNC1; 160980), and the McCune-Albright syndrome (174800).;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the aryl hydrocarbon receptor-interacting protein gene (AIP, 605555.0001); Caused by somatic mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (GNAS1, 139320.0008);

Neoplasia : Pituitary adenoma; Somatotrophinoma; Prolactinoma;

Laboratory abnormalities : Increased serum growth hormone levels; Increased serum IGF1; Increased serum prolactin;

Prefixed ID : #102200;

Details

Origin ID

102200;

UMLS CUI

C4538355;

Automatic exact mappings (from CISMeF team)
- ACP3 wt Allele [NCIt concept]
- ASAP1 wt Allele [NCIt concept]
- Acromegaly [ORDO Disease]
- Familial isolated pituitary adenoma [MedDRA LLT]
- Familial isolated pituitary adenoma [ORDO Disease]
- Familial isolated pituitary adenoma (disorder) [SNOMED CT concept]
- GIGANTISM [WHO-ART Included Term]
- Gigantism [NCIt concept]
- Gigantism [MedDRA Preferred Term]
- Gigantism (disorder) [SNOMED CT concept]
- Infantile Fibrosarcoma [NCIt concept]
- PAPOLA wt Allele [NCIt concept]
- Papiamento Language [NCIt concept]
- Pituitary gigantism [ORDO Disease]
- Plasmin-Antiplasmin Complex [NCIt concept]
- Prostatic Acid Phosphatase [NCIt concept]
- Prostatic Acid Phosphatase Measurement [NCIt concept]
- Pulmonary Artery Pressure [NCIt concept]
- REG3A wt Allele [NCIt concept]
- TUSC2 wt Allele [NCIt concept]
- factor for inversion stimulation protein [MeSH Descriptor]
- fistulography [CISMeF resources Type]
- gigantism [MeSH Descriptor]
- gigantism [MeSH concept]
- gigantism, nos [SNOMED Notion]
- infusions, intravenous [MeSH Descriptor]
- pituitary adenoma 1 [DO Concept]
- pituitary adenoma, familial isolated [MeSH concept]
- pituitary adenoma, familial isolated [MeSH Supplementary Concept]
- polyphosphate:AMP phosphotransferase activity [GO term]
- pulmonary alveolar proteinosis [MeSH Descriptor]
- pulmonary wedge pressure [MeSH Descriptor]
- somatotrophinoma, familial [MeSH concept]
Currated CISMeF NLP mapping
- Pituitary growth hormone cell adenoma [HPO term]
- Somatotroph Pituitary Neuroendocrine Tumor [NCIt concept]
- Somatotroph adenoma [ICD-11 More detail]
- Somatotroph adenoma [ICD-11 Extension code]
- Somatotroph adenoma (disorder) [SNOMED CT concept]
- Somatotroph pituitary adenoma (morphologic abnormality) [SNOMED CT concept]
- Somatotropic adenoma [ORDO Disease]
- growth Hormone-Secreting pituitary adenoma [MeSH concept]
- growth hormone secreting pituitary adenoma [DO Concept]
- growth hormone-secreting pituitary adenoma [MeSH Descriptor]
- somatotrophic adenoma [Disease (Nov.)]
DO Cross reference
- pituitary adenoma 1 [DO Concept]
False automatic mappings
- Finland [NCIt concept]
- Flexibility Index [NCIt concept]
- If - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- journal impact factor [MeSH Descriptor]
Genes related to phenotype
- Aryl hydrocarbon receptor-interacting protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Coarse facial features [HPO term]
- Elevated circulating growth hormone concentration [HPO term]
- Galactorrhea [HPO term]
- Hypertension [HPO term]
- Increased circulating prolactin concentration [HPO term]
- Increased serum insulin-like growth factor 1 [HPO term]
- Irregular menstruation [HPO term]
- Left ventricular hypertrophy [HPO term]
- Pituitary adenoma [HPO term]
- Pituitary growth hormone cell adenoma [HPO term]
- Pituitary prolactin cell adenoma [HPO term]
- Prolactinoma [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Acromegaly [ORDO Disease]
- Familial isolated pituitary adenoma [ORDO Disease]
- Pituitary gigantism [ORDO Disease]
- Somatotropic adenoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- somatotrophinoma, familial [MeSH concept]

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