Pituitary gigantism
Synonyms: Hypophyseal gigantism · Infantile and juvenile forms of acromegaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pituitary gigantism | Hypophyseal gigantism · Infantile and juvenile forms of acromegaly |
| fr | Gigantisme hypophysaire | Acromégalie infantile et juvénile · Gigantisme pituitaire |
| de | Gigantismus, hypophysärer | Akromegalie, infantile und juvenile Formen · Hypophysärer Riesenwuchs |
| es | Gigantismo hipofisario | Acromegalia de formas infantil y juvenil · Gigantismo pituitario |
| it | Gigantismo ipofisario | Acromegalia, forme infantili e giovanili · Forme infantili e giovanili di acromegalia · Gigantismo pituitario |
| nl | Hypofysair gigantisme | Hypofysaire reuzengroei · Infantiele en juveniele vormen van acromegalie |
| pt | Gigantismo hipofisário | Formas infantis e juvenis de acromegalia · Gigantismo pituitário |
| pl | Gigantyzm przysadkowy | Dziecięce i młodzieńcze formy akromegalii |
| cs | Pituitární gigantismus | Hypofyzární gigantismus · Infantilní a juvenilní formy akromegalie |
| uk | Гіпофізарний гігантизм | Гіпофізарний гігантизм · Інфантильна та ювенільна форми акромегалії |
| zh | 垂体性巨人症 | 婴幼儿和少年型肢端肥大症 |
| tr | Hipofizer devlik | Hipofiz devliği · İnfantil ve genç akromegali formları |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102200 | NTBT | validated | |
| ICD-10 | E22.0 | NTBT | specific | validated |
| ICD-11 | 5A60.0 | NTBT | specific | validated |
| MONDO | 0020479 | E | validated | |
| MeSH | D005877 | E | validated | |
| UMLS | C0017547 | E | validated | |
| GARD | 6506 | E | validated | |
| MedDRA | 10018265 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:715120Hyperpituitarism
rare endocrine diseases - ORPHA:96256Somatotropic adenoma
rare endocrine diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AIP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:358 | ENSG00000110711 | 605555 | 11q13.2 | AHR interacting HSP90 co-chaperone | 26187128[PMID] |
| MEN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7010 | ENSG00000133895 | 613733 | 11q13.1 | menin 1 | 26187128[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT]_26187128[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2015-11-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000280 | Coarse facial features | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0002007 | Frontal bossing | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | |
| HP:0001176 | Large hands | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001833 | Long foot | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011760 | Pituitary growth hormone cell adenoma | |
| HP:0012411 | Premature pubarche | |
| HP:0011407 | Proportionate tall stature | |
| HP:0000098 | Tall stature | |
| HP:0005978 | Type II diabetes mellitus | |
| Frequent (79-30%) | ||
| HP:0000141 | Amenorrhea | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0006767 | Pituitary prolactin cell adenoma | |
| Occasional (29-5%) | ||
| HP:0100829 | Galactorrhea | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 4843205[PMID]_6723082[PMID]_18200440[PMID]_16728643[PMID]_9920092[PMID]_17360484[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99725
- This record as JSON: /data/d/99725.json