Pituitary adenoma 4, acth-secreting

Preferred Label : Pituitary adenoma 4, acth-secreting;

Symbol : PITA4;

CISMeF acronym : PITA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cushing disease, pituitary;

Description : Cushing 'disease' is a condition associated with increased blood cortisol resulting from adrenocorticotropic hormone (ACTH)-producing pituitary tumors that are resistant to glucocorticoid negative feedback (Bilodeau et al., 2006). ACTH is formed as a precursor from the POMC gene product (176830). See also Cushing 'syndrome' (219080), in which excess cortisol secretion results from adrenocortical pathology.;

Inheritance : Autosomal recessive vs. dominant MEN1;

Prefixed ID : #219090;

Details

Origin ID

219090;

UMLS CUI

C0221406;

Currated CISMeF NLP mapping
- ACTH producing pituitary adenoma [Disease (Nov.)]
- ACTH-Secreting pituitary adenoma [MeSH concept]
- ACTH-secreting pituitary adenoma [DO Concept]
- Corticotroph adenoma (disorder) [SNOMED CT concept]
- Cushing Disease [NCIt concept]
- Cushing disease [ORDO Disease]
- Pituitary corticotropic cell adenoma [HPO term]
- acth-secreting pituitary adenoma [MeSH Descriptor]
- pituitary acth hypersecretion [MeSH Descriptor]
DO Cross reference
- ACTH-secreting pituitary adenoma [DO Concept]
Genes related to phenotype
- Ubiquitin-specific protease 8 [OMIM gene]
HPO term(s)
- Abdominal obesity [HPO term]
- Abnormal fear/anxiety-related behavior [HPO term]
- Alkalosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biconcave vertebral bodies [HPO term]
- Bruising susceptibility [HPO term]
- Codfish vertebrae [HPO term]
- Ecchymosis [HPO term]
- Edema [HPO term]
- Emotional lability [HPO term]
- Facial erythema [HPO term]
- Glucose intolerance [HPO term]
- Hirsutism [HPO term]
- Hypertension [HPO term]
- Hypokalemia [HPO term]
- Impaired glucose tolerance [HPO term]
- Increased circulating ACTH level [HPO term]
- Kyphosis [HPO term]
- Mood changes [HPO term]
- Nephrolithiasis [HPO term]
- Obesity [HPO term]
- Oligomenorrhea [HPO term]
- Osteoporosis [HPO term]
- Pituitary adenoma [HPO term]
- Poor wound healing [HPO term]
- Psychotic mentation [HPO term]
- Purplish striae [HPO term]
- Purpura [HPO term]
- Ruddy face and neck [HPO term]
- Skeletal muscle atrophy [HPO term]
- Striae distensae [HPO term]
- Thin skin [HPO term]
- Vertebral compression fracture [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Cushing disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ACTH producing pituitary adenoma [Disease (Nov.)]
- ACTH-Secreting pituitary adenoma [MeSH concept]
- ACTH-secreting pituitary adenoma [DO Concept]
- Corticotroph Pituitary Neuroendocrine Tumor [NCIt concept]
- Corticotroph adenoma (disorder) [SNOMED CT concept]
- Cushing Disease [NCIt concept]
- Cushing disease [Disease (Nov.)]
- Cushing disease [ORDO Disease]
- Cushing disease [TUV Concept]
- Cushing's disease [MedDRA LLT]
- Pituitary corticotropic cell adenoma [HPO term]
- Pituitary-dependent Cushing disease [ICD-11 Subcategory]
- Pituitary-dependent Cushing's disease [ICD-10 Sub-category]
- Pituitary-dependent Cushing's disease (disorder) [SNOMED CT concept]
- Pituitary-dependent Cushing's syndrome [MedDRA Preferred Term]
- acth-secreting pituitary adenoma [MeSH Descriptor]
- pituitary ACTH hypersecretion [MeSH concept]
- pituitary acth hypersecretion [MeSH Descriptor]
- pituitary dependent hypercortisolism [SNOMED Notion]
- pituitary-dependent Cushing's disease [DO Concept]
Validated automatic mappings to NTBT
- Adrenocortical adenoma [ORDO Disease]
- Corticotroph Pituitary Neuroendocrine Tumor [NCIt concept]

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